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Organism
Showing 1-30 of 76 results for "rearrangements"
RLF
rearranged L-myc fusion
Synonyms:
ZN-15L, ZNF292L
Species:
Human RLF (6018), Mouse Rlf (109263), Rat Rlf (313566), cow RLF (527058), sheep RLF (101121469), domestic guinea pig Rlf (100720569), naked mole-rat Rlf (101716504), Thale Cress RLF (830827), domestic cat RLF (101097824), Horse RLF (100068262), dog RLF (475315), Zebrafish rlf (562452), chicken RLF (419573)
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BVR1
Burkitt lymphoma variant rearranging region 1
Species:
Human BVR1 (700)
RLFP1
rearranged L-myc fusion pseudogene 1
Synonyms:
RLFP
Species:
Human RLFP1 (57008)
FRAT1
frequently rearranged in advanced T-cell lymphomas
Species:
Human FRAT1 (10023), Mouse Frat1 (14296), naked mole-rat Frat1 (101724371), domestic cat FRAT1 (101087686), dog FRAT1 (486819), cow FRAT1 (505664)
Summary:
The protein encoded by this gene belongs to the GSK-3-binding protein family. The protein inhibits GSK-3-mediated phosphorylation of beta-catenin and positively regulates the Wnt signaling pathway. It may function in tumor progression and in lymphomagenesis. [provided by RefSeq, Oct 2008
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FRAT2
frequently rearranged in advanced T-cell lymphomas 2
Species:
Human FRAT2 (23401), Mouse Frat2 (212398), Rat Frat2 (679110), dog FRAT2 (100684222), cow FRAT2 (539144), domestic guinea pig Frat2 (101789016), sheep FRAT2 (101108269)
Summary:
The protein encoded by this intronless gene belongs to the GSK-3-binding protein family. Studies show that this protein plays a role as a positive regulator of the WNT signaling pathway. It may be upregulated in tumor progression. [provided by RefSeq, Jul 2008
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Species:
Mouse Orly (75204)
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Rat RGD1306353 (305911)
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Rat LOC682849 (682849)
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Rat LOC679644 (679644)
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Rat RGD1564476 (502806)
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Rat RGD1564381 (502814)
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MLLT10
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10
Synonyms:
AF10
Species:
Human MLLT10 (8028), Mouse Mllt10 (17354), Rat Mllt10 (361285), Zebrafish mllt10 (492342), cow MLLT10 (790884), cow MLLT10 (787416), domestic cat MLLT10 (101095180), dog MLLT10 (487096), chicken MLLT10 (420509), domestic guinea pig Mllt10 (100719388), naked mole-rat Mllt10 (101706801), Domestic Rabbit MLLT10 (100342728), sheep MLLT10 (101113089)
Summary:
This gene encodes a transcription factor and has been identified as a partner gene involved in several chromosomal rearrangements resulting in various leukemias. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010
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FAM90A1
family with sequence similarity 90, member A1
Species:
Human FAM90A1 (55138), Rat Fam90a1 (100362477)
Summary:
FAM90A1 belongs to subfamily I of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299
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VAV1
vav 1 guanine nucleotide exchange factor
Synonyms:
VAV
Species:
Human VAV1 (7409), Mouse Vav1 (22324), Rat Vav1 (25156), domestic cat VAV1 (101097212), dog VAV1 (485016), cow VAV1 (617345), sheep VAV1 (101107354), naked mole-rat Vav1 (101700388), domestic guinea pig Vav1 (100713221)
Summary:
This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. The encoded protein is important in hematopoiesis, playing a role in T-cell and B-cell development and activation. The encoded protein has been identified as the specific binding partner of Nef proteins from HIV-1. Coexpression and binding of these partners initiates profound morphological changes, cytoskeletal rearrangements and the JNK/SAPK signaling cascade, leading to increased levels of viral transcription and replication. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012
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TCL1A
T-cell leukemia/lymphoma 1A
Synonyms:
TCL1
Species:
Human TCL1A (8115), Rat Tcl1a (690575), cow TCL1A (506540), sheep TCL1A (101116094), naked mole-rat Tcl1a (101704738), dog TCL1A (612421), domestic cat TCL1A (101090193)
Summary:
Overexpression of the TCL1 gene in humans has been implicated in the development of mature T cell leukemia, in which chromosomal rearrangements bring the TCL1 gene in close proximity to the T-cell antigen receptor (TCR)-alpha (MIM 186880) or TCR-beta (MIM 186930) regulatory elements (summarized by Virgilio et al., 1998 [PubMed 9520462
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TFG
TRK-fused gene
Synonyms:
HMSNP, SPG57, TF6, TRKT3
Species:
Human TFG (10342), Mouse Tfg (21787), Rat Tfg (360709), Zebrafish tfg (336466), domestic cat TFG (101094042), dog TFG (487954), chicken TFG (418391), naked mole-rat Tfg (101716893), domestic guinea pig Tfg (100727215), cow TFG (505171), sheep TFG (101110985)
Summary:
There are several documented fusion oncoproteins encoded partially by this gene. This gene also participates in several oncogenic rearrangements resulting in anaplastic lymphoma and mixoid chondrosarcoma, and may play a role in the NF-kappaB pathway. Multiple transcript variants have been found for this gene. [provided by RefSeq, Sep 2010
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IGLL1
immunoglobulin lambda-like polypeptide 1
Synonyms:
14.1, AGM2, CD179b, IGL1, IGL5, IGLJ14.1, IGLL, IGO, IGVPB, VPREB2
Species:
Human IGLL1 (3543), Mouse Igll1 (16136), Rat Igll1 (100360919), chicken IGLL1 (416928), cow IGLL1 (789205), Domestic Rabbit IGLL1 (100008913)
Summary:
The preB cell receptor is found on the surface of proB and preB cells, where it is involved in transduction of signals for cellular proliferation, differentiation from the proB cell to the preB cell stage, allelic exclusion at the Ig heavy chain gene locus, and promotion of Ig light chain gene rearrangements. The preB cell receptor is composed of a membrane-bound Ig mu heavy chain in association with a heterodimeric surrogate light chain. This gene encodes one of the surrogate light chain subunits and is a member of the immunoglobulin gene superfamily. This gene does not undergo rearrangement. Mutations in this gene can result in B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or no gamma globulins or antibodies are made. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008
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ETV6
ets variant 6
Synonyms:
TEL, TEL/ABL
Species:
Human ETV6 (2120), Mouse Etv6 (14011), Rat Etv6 (312777), Zebrafish etv6 (114444), cow ETV6 (504512), Horse ETV6 (100063341), domestic cat ETV6 (101081738), dog ETV6 (486685), chicken ETV6 (395750), sheep ETV6 (101119464), naked mole-rat Etv6 (101704662), domestic guinea pig Etv6 (100734719)
Summary:
This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008
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GOLGA6B
golgin A6 family, member B
Synonyms:
GOLGA, GOLGA6D
Species:
Human GOLGA6B (55889)
Summary:
This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, which are greater than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosomal rearrangements that underlie genomic disease. This gene is a member of the golgin gene family, whose protein products localize to the Golgi apparatus. The majority of the related gene copies are thought to be transcribed pseudogenes. It is not known whether this gene is a pseudogene or if it encodes a golgin protein. [provided by RefSeq, Jul 2008
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S100A2
S100 calcium binding protein A2
Synonyms:
CAN19, S100L
Species:
Human S100A2 (6273), Mouse S100a2 (628324), dog S100A2 (612326), domestic cat S100A2 (101082878), domestic guinea pig S100a2 (100727702), cow S100A2 (509860), sheep S100A2 (101105293)
Summary:
The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may have a tumor suppressor function. Chromosomal rearrangements and altered expression of this gene have been implicated in breast cancer. [provided by RefSeq, Jul 2008
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S100A11
S100 calcium binding protein A11
Synonyms:
MLN70, S100C
Species:
Human S100A11 (6282), Mouse S100a11 (20195), Rat S100a11 (445415), Zebrafish s100a11 (100307070), domestic cat S100A11 (101083022), chicken S100A11 (396075), cow S100A11 (337886), sheep S100A11 (101120456), domestic guinea pig S100a11 (100723414), Domestic Rabbit S100A11 (100008975), naked mole-rat S100a11 (101702920)
Summary:
The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. [provided by RefSeq, Jul 2008
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ALK
anaplastic lymphoma receptor tyrosine kinase
Synonyms:
CD246, NBLST3
Species:
Human ALK (238), Mouse Alk (11682), Rat Alk (266802), Zebrafish alk (563509), chicken ALK (421297), dog ALK (483021), Horse ALK (100070891), domestic cat ALK (101091689), fruit fly Alk (53425), naked mole-rat Alk (101703312), domestic guinea pig Alk (100732585), sheep ALK (101114094)
Summary:
This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011
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CGNL1
cingulin-like 1
Synonyms:
JACOP
Species:
Human CGNL1 (84952), Mouse Cgnl1 (68178), Rat Cgnl1 (315795), Zebrafish cgnl1 (553350), chicken CGNL1 (415405), domestic cat CGNL1 (101083594), Horse CGNL1 (100068509), cow CGNL1 (517509), dog CGNL1 (487574), sheep CGNL1 (101119219), naked mole-rat Cgnl1 (101702451), domestic guinea pig Cgnl1 (100717321)
Summary:
This gene encodes a member of the cingulin family. The encoded protein localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activity of the small GTPases RhoA and Rac1. Heterozygous chromosomal rearrangements resulting in association of the promoter for this gene with the aromatase gene are a cause of aromatase excess syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2011
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VPREB1
pre-B lymphocyte 1
Synonyms:
IGI, IGVPB, VPREB
Species:
Human VPREB1 (7441), Mouse Vpreb1 (22362), Rat Vpreb1 (303782), Domestic Rabbit VPREB1 (100328957), naked mole-rat Vpreb1 (101707791), cow VPREB1 (407114), dog VPREB1 (486411)
Summary:
The protein encoded by this gene belongs to the immunoglobulin superfamily and is expressed selectively at the early stages of B cell development, namely, in proB and early preB cells. This gene encodes the iota polypeptide chain that is associated with the Ig-mu chain to form a molecular complex which is expressed on the surface of pre-B cells. The complex is thought to regulate Ig gene rearrangements in the early steps of B-cell differentiation. [provided by RefSeq, Oct 2008
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SHPK
sedoheptulokinase
Synonyms:
CARKL, SHK
Species:
Human SHPK (23729), Mouse Shpk (74637), Rat Shpk (287479), Zebrafish shpk (100001676), chicken SHPK (417607), dog SHPK (491219), domestic cat SHPK (101093154), cow SHPK (511999), sheep SHPK (101122289), domestic guinea pig Shpk (100731835), naked mole-rat Shpk (101720833), Domestic Rabbit SHPK (100352607)
Summary:
The protein encoded by this gene has weak homology to several carbohydrate kinases, a class of proteins involved in the phosphorylation of sugars as they enter a cell, inhibiting return across the cell membrane. Sequence variation between this novel gene and known carbohydrate kinases suggests the possibility of a different substrate, cofactor or changes in kinetic properties distinguishing it from other carbohydrate kinases. The gene resides in a region commonly deleted in cystinosis patients, suggesting a role as a modifier for the cystinosis phenotype. The genomic region is also rich in Alu repetitive sequences, frequently involved in chromosomal rearrangements. [provided by RefSeq, Jul 2008
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VAV3
vav 3 guanine nucleotide exchange factor
Species:
Human VAV3 (10451), Mouse Vav3 (57257), Rat Vav3 (295378), chicken VAV3 (373939), domestic cat VAV3 (101087417), Horse VAV3 (100057737), dog VAV3 (479921), cow VAV3 (521961), sheep VAV3 (101120709), naked mole-rat Vav3 (101716743), Domestic Rabbit VAV3 (100341627), domestic guinea pig Vav3 (100714719)
Summary:
This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. This gene product acts as a GEF preferentially for RhoG, RhoA, and to a lesser extent, RAC1, and it associates maximally with the nucleotide-free states of these GTPases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008
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ARAP3
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3
Synonyms:
CENTD3, DRAG1
Species:
Human ARAP3 (64411), Mouse Arap3 (106952), Rat Arap3 (361314), sheep ARAP3 (101105821), Domestic Rabbit ARAP3 (100354264), naked mole-rat Arap3 (101709044), domestic guinea pig Arap3 (100721743), Zebrafish arap3 (558931), cow ARAP3 (100337193), cow ARAP3 (513722), domestic cat ARAP3 (101080259), dog ARAP3 (487188), chicken ARAP3 (416196)
Summary:
This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2008
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ARHGEF18
Rho/Rac guanine nucleotide exchange factor (GEF) 18
Synonyms:
P114-RhoGEF
Species:
Human ARHGEF18 (23370), Mouse Arhgef18 (102098), Rat Arhgef18 (304193), chicken ARHGEF18 (420132), domestic cat ARHGEF18 (101081026), dog ARHGEF18 (484991), cow ARHGEF18 (522521), domestic guinea pig Arhgef18 (100736199), naked mole-rat Arhgef18 (101722983), sheep ARHGEF18 (101122356)
Summary:
Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008
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LMBR1
limb development membrane protein 1
Synonyms:
ACHP, C7orf2, DIF14, PPD2, TPT, ZRS
Species:
Human LMBR1 (64327), Mouse Lmbr1 (56873), Rat Lmbr1 (362295), sheep LMBR1 (101117926), Domestic Rabbit LMBR1 (100352265), domestic guinea pig Lmbr1 (100733690), naked mole-rat Lmbr1 (101719197), Zebrafish lmbr1 (557300), dog LMBR1 (482819), domestic cat LMBR1 (101088917), Horse LMBR1 (100066736), cow LMBR1 (519337), chicken LMBR1 (373986)
Summary:
This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression. [provided by RefSeq, Jul 2008
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S100A4
S100 calcium binding protein A4
Synonyms:
18A2, 42A, CAPL, FSP1, MTS1, P9KA, PEL98
Species:
Human S100A4 (6275), Mouse S100a4 (20198), Rat S100a4 (24615), chicken S100A4 (101747315), chicken S100A4 (100858292), dog S100A4 (403787), domestic cat S100A4 (101083141), naked mole-rat S100a4 (101720560), domestic guinea pig S100a4 (100723950), cow S100A4 (282343), sheep S100A4 (101104794)
Summary:
The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008
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