SLA (Src like adaptor) - Rat Genome Database

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Gene: SLA (Src like adaptor) Homo sapiens
Analyze
Symbol: SLA
Name: Src like adaptor
RGD ID: 1351693
HGNC Page HGNC
Description: Predicted to have non-membrane spanning protein tyrosine kinase activity and signaling receptor binding activity. Predicted to be involved in several processes, including innate immune response; peptidyl-tyrosine autophosphorylation; and transmembrane receptor protein tyrosine kinase signaling pathway. Predicted to localize to dendritic spine; extrinsic component of cytoplasmic side of plasma membrane; and focal adhesion; PARTICIPATES IN platelet-derived growth factor signaling pathway; INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; all-trans-retinoic acid.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: hSLAP; SLA1; SLAP; SLAP-1; src-like-adapter; src-like-adapter protein 1; Src-like-adaptor
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8133,036,728 - 133,102,912 (-)EnsemblGRCh38hg38GRCh38
GRCh388133,036,728 - 133,103,053 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378134,048,973 - 134,114,846 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368134,118,155 - 134,184,479 (-)NCBINCBI36hg18NCBI36
Build 348134,118,155 - 134,141,628NCBI
Celera8130,226,336 - 130,292,597 (-)NCBI
Cytogenetic Map8q24.22NCBI
HuRef8129,368,758 - 129,435,010 (-)NCBIHuRef
CHM1_18134,089,636 - 134,155,921 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7543898   PMID:8825655   PMID:9020066   PMID:9660183   PMID:9742401   PMID:10449770   PMID:10662792   PMID:10779329   PMID:11179692   PMID:11696592   PMID:12477932   PMID:15117958  
PMID:15489334   PMID:16169070   PMID:16273093   PMID:16327786   PMID:16344560   PMID:16521218   PMID:17237826   PMID:18193084   PMID:19240061   PMID:19631983   PMID:20379614   PMID:21145461  
PMID:21873635   PMID:21900206   PMID:22561518   PMID:22798681   PMID:22832960   PMID:22973453   PMID:23300935   PMID:23612905   PMID:24284075   PMID:24457997   PMID:24658140   PMID:24728074  
PMID:25402006   PMID:25800872   PMID:26124079   PMID:26339145   PMID:28514442   PMID:31156621   PMID:31980649   PMID:32296183  


Genomics

Comparative Map Data
SLA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8133,036,728 - 133,102,912 (-)EnsemblGRCh38hg38GRCh38
GRCh388133,036,728 - 133,103,053 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378134,048,973 - 134,114,846 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368134,118,155 - 134,184,479 (-)NCBINCBI36hg18NCBI36
Build 348134,118,155 - 134,141,628NCBI
Celera8130,226,336 - 130,292,597 (-)NCBI
Cytogenetic Map8q24.22NCBI
HuRef8129,368,758 - 129,435,010 (-)NCBIHuRef
CHM1_18134,089,636 - 134,155,921 (-)NCBICHM1_1
Sla
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391566,652,668 - 66,703,921 (-)NCBIGRCm39mm39
GRCm39 Ensembl1566,652,668 - 66,703,678 (-)Ensembl
GRCm381566,780,819 - 66,831,829 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1566,780,819 - 66,831,829 (-)EnsemblGRCm38mm10GRCm38
MGSCv371566,612,426 - 66,663,391 (-)NCBIGRCm37mm9NCBIm37
MGSCv361566,610,533 - 66,661,498 (-)NCBImm8
Celera1568,313,400 - 68,364,521 (-)NCBICelera
Cytogenetic Map15D2NCBI
cM Map1529.3NCBI
Sla
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2798,534,431 - 98,584,810 (-)NCBI
Rnor_6.0 Ensembl7107,584,118 - 107,634,335 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07107,585,055 - 107,604,950 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07107,517,379 - 107,537,284 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47104,153,028 - 104,202,272 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17104,187,257 - 104,236,502 (-)NCBI
Celera795,087,623 - 95,107,518 (-)NCBICelera
Cytogenetic Map7q34NCBI
Sla
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554617,622,501 - 7,653,782 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554617,622,501 - 7,643,008 (-)NCBIChiLan1.0ChiLan1.0
SLA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18132,666,411 - 132,732,669 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8132,666,411 - 132,732,669 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08129,690,546 - 129,757,660 (-)NCBIMhudiblu_PPA_v0panPan3
SLA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11329,503,304 - 29,590,679 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1329,504,867 - 29,569,773 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1329,477,307 - 29,564,622 (-)NCBI
ROS_Cfam_1.01329,859,189 - 29,946,631 (-)NCBI
UMICH_Zoey_3.11329,585,790 - 29,673,356 (-)NCBI
UNSW_CanFamBas_1.01329,687,899 - 29,773,789 (-)NCBI
UU_Cfam_GSD_1.01330,036,353 - 30,122,339 (-)NCBI
Sla
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053038,784,853 - 8,838,894 (+)NCBI
SpeTri2.0NW_00493647016,232,614 - 16,264,982 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.148,166,829 - 8,247,396 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.248,087,278 - 8,167,827 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLA
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18127,466,230 - 127,504,344 (-)NCBI
ChlSab1.1 Ensembl8127,468,048 - 127,504,325 (-)Ensembl
Vero_WHO_p1.0NW_02366603912,574,726 - 12,641,317 (+)NCBI
Sla
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473522,929,467 - 22,949,471 (+)NCBI

Position Markers
D8S529  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,099,259 - 134,099,406UniSTSGRCh37
GRCh378134,099,129 - 134,099,390UniSTSGRCh37
Build 368134,168,311 - 134,168,572RGDNCBI36
Celera8130,276,550 - 130,276,692UniSTS
Celera8130,276,420 - 130,276,676RGD
Cytogenetic Map8q24UniSTS
HuRef8129,418,968 - 129,419,105UniSTS
HuRef8129,418,838 - 129,419,089UniSTS
Marshfield Genetic Map8148.12UniSTS
Marshfield Genetic Map8148.12RGD
Genethon Genetic Map8145.9UniSTS
TNG Radiation Hybrid Map865205.0UniSTS
deCODE Assembly Map8144.75UniSTS
Stanford-G3 RH Map84117.0UniSTS
GeneMap99-GB4 RH Map8515.57UniSTS
Whitehead-YAC Contig Map8 UniSTS
GeneMap99-G3 RH Map84207.0UniSTS
D1S466  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371182,303,632 - 182,303,800UniSTSGRCh37
GRCh371182,303,599 - 182,303,809UniSTSGRCh37
Build 361180,570,255 - 180,570,423RGDNCBI36
Celera8130,236,304 - 130,237,600UniSTS
Celera1155,414,746 - 155,414,910RGD
Celera1155,414,713 - 155,414,919UniSTS
Cytogenetic Map1q25.3-q31.1UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map8q24UniSTS
HuRef1153,538,876 - 153,539,074UniSTS
HuRef1153,538,909 - 153,539,065UniSTS
HuRef350,367,626 - 50,368,054UniSTS
Marshfield Genetic Map1198.3UniSTS
Marshfield Genetic Map1198.3RGD
Genethon Genetic Map1203.0UniSTS
TNG Radiation Hybrid Map186222.0UniSTS
deCODE Assembly Map1183.53UniSTS
GeneMap99-GB4 RH Map1634.34UniSTS
Whitehead-RH Map1792.5UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11563.6UniSTS
GeneMap99-G3 RH Map17137.0UniSTS
RH11483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,049,092 - 134,049,220UniSTSGRCh37
Build 368134,118,274 - 134,118,402RGDNCBI36
Celera8130,226,455 - 130,226,583RGD
Cytogenetic Map8q24UniSTS
HuRef8129,368,877 - 129,369,005UniSTS
GeneMap99-GB4 RH Map8516.78UniSTS
D17S1775  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,049,898 - 134,050,003UniSTSGRCh37
Build 368134,119,080 - 134,119,185RGDNCBI36
Celera8130,227,261 - 130,227,366RGD
Cytogenetic Map8q24UniSTS
HuRef8129,369,683 - 129,369,788UniSTS
G60100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,049,921 - 134,050,113UniSTSGRCh37
Build 368134,119,103 - 134,119,295RGDNCBI36
Celera8130,227,284 - 130,227,476RGD
Cytogenetic Map8q24UniSTS
HuRef8129,369,706 - 129,369,898UniSTS
TNG Radiation Hybrid Map865104.0UniSTS
D8S1538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,066,025 - 134,066,145UniSTSGRCh37
Build 368134,135,207 - 134,135,327RGDNCBI36
Celera8130,243,387 - 130,243,507RGD
Cytogenetic Map8q24UniSTS
HuRef8129,385,807 - 129,385,927UniSTS
SHGC-144869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,110,099 - 134,110,405UniSTSGRCh37
Build 368134,179,281 - 134,179,587RGDNCBI36
Celera8130,287,386 - 130,287,692RGD
Cytogenetic Map8q24UniSTS
HuRef8129,429,798 - 129,430,104UniSTS
TNG Radiation Hybrid Map865225.0UniSTS
HSC06D062  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,049,916 - 134,050,119UniSTSGRCh37
Build 368134,119,098 - 134,119,301RGDNCBI36
Celera8130,227,279 - 130,227,482RGD
Cytogenetic Map8q24UniSTS
HuRef8129,369,701 - 129,369,904UniSTS
GeneMap99-GB4 RH Map8501.0UniSTS
Whitehead-RH Map8659.7UniSTS
RH47284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,049,916 - 134,050,038UniSTSGRCh37
Build 368134,119,098 - 134,119,220RGDNCBI36
Celera8130,227,279 - 130,227,401RGD
Cytogenetic Map8q24UniSTS
HuRef8129,369,701 - 129,369,823UniSTS
GeneMap99-GB4 RH Map8499.23UniSTS
NCBI RH Map81577.5UniSTS
IB3077  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,049,916 - 134,050,221UniSTSGRCh37
Build 368134,119,098 - 134,119,403RGDNCBI36
Celera8130,227,279 - 130,227,584RGD
Cytogenetic Map8q24UniSTS
HuRef8129,369,701 - 129,370,006UniSTS
GeneMap99-GB4 RH Map8515.47UniSTS
Whitehead-RH Map8680.7UniSTS
NCBI RH Map81520.9UniSTS
A002K18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,049,953 - 134,050,108UniSTSGRCh37
Build 368134,119,135 - 134,119,290RGDNCBI36
Celera8130,227,316 - 130,227,471RGD
Cytogenetic Map8q24UniSTS
HuRef8129,369,738 - 129,369,893UniSTS
GeneMap99-GB4 RH Map8515.47UniSTS
Whitehead-RH Map8680.2UniSTS
NCBI RH Map81520.9UniSTS
SHGC-32844  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,049,313 - 134,049,417UniSTSGRCh37
Build 368134,118,495 - 134,118,599RGDNCBI36
Celera8130,226,676 - 130,226,780RGD
Cytogenetic Map8q24UniSTS
HuRef8129,369,098 - 129,369,202UniSTS
TNG Radiation Hybrid Map865124.0UniSTS
GeneMap99-GB4 RH Map8515.47UniSTS
Whitehead-RH Map8680.7UniSTS
NCBI RH Map81520.9UniSTS
GeneMap99-G3 RH Map84267.0UniSTS
WI-3500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,067,042 - 134,067,166UniSTSGRCh37
Build 368134,136,224 - 134,136,348RGDNCBI36
Celera8130,244,404 - 130,244,528RGD
Cytogenetic Map8q24UniSTS
HuRef8129,386,824 - 129,386,948UniSTS
Whitehead-RH Map8680.7UniSTS
D8S529  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24UniSTS
TNG Radiation Hybrid Map865205.0UniSTS
Stanford-G3 RH Map84117.0UniSTS
GeneMap99-G3 RH Map84207.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4958
Count of miRNA genes:1220
Interacting mature miRNAs:1563
Transcripts:ENST00000338087, ENST00000395352, ENST00000427060, ENST00000517549, ENST00000517615, ENST00000517648, ENST00000517932, ENST00000518565, ENST00000518594, ENST00000519341, ENST00000519504, ENST00000519558, ENST00000519747, ENST00000520106, ENST00000521302, ENST00000521823, ENST00000522002, ENST00000522119, ENST00000522432, ENST00000522946, ENST00000523224, ENST00000523610, ENST00000524345
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 385 1120 696 30 1384 14 746 102 404 74 153 1203 17 698 363 1
Low 1919 1754 993 563 125 420 3105 1647 3072 289 1072 191 144 506 2122 1
Below cutoff 22 110 15 14 92 13 426 417 213 14 145 45 7 303 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001045556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001045557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF235100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF305872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ238591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ238592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ238593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW137142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR536537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D89077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA483212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA522819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA999385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB265860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC313073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB775548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI573974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI573976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI573978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U30473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U44403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000338087   ⟹   ENSP00000337548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,036,728 - 133,102,602 (-)Ensembl
RefSeq Acc Id: ENST00000395352   ⟹   ENSP00000378759
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,037,653 - 133,102,912 (-)Ensembl
RefSeq Acc Id: ENST00000427060   ⟹   ENSP00000394049
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,037,639 - 133,060,358 (-)Ensembl
RefSeq Acc Id: ENST00000517549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,038,260 - 133,040,341 (-)Ensembl
RefSeq Acc Id: ENST00000517615
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,072,908 - 133,076,127 (-)Ensembl
RefSeq Acc Id: ENST00000517648   ⟹   ENSP00000428559
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,038,427 - 133,102,612 (-)Ensembl
RefSeq Acc Id: ENST00000517932
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,074,875 - 133,102,612 (-)Ensembl
RefSeq Acc Id: ENST00000518565
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,048,579 - 133,102,876 (-)Ensembl
RefSeq Acc Id: ENST00000518594
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,050,210 - 133,075,022 (-)Ensembl
RefSeq Acc Id: ENST00000519341   ⟹   ENSP00000429681
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,047,908 - 133,102,663 (-)Ensembl
RefSeq Acc Id: ENST00000519504
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,050,210 - 133,060,288 (-)Ensembl
RefSeq Acc Id: ENST00000519558   ⟹   ENSP00000429143
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,060,118 - 133,102,605 (-)Ensembl
RefSeq Acc Id: ENST00000519747   ⟹   ENSP00000428971
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,050,892 - 133,102,610 (-)Ensembl
RefSeq Acc Id: ENST00000520106
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,049,332 - 133,075,027 (-)Ensembl
RefSeq Acc Id: ENST00000521302   ⟹   ENSP00000430184
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,050,831 - 133,102,605 (-)Ensembl
RefSeq Acc Id: ENST00000521823
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,047,846 - 133,102,628 (-)Ensembl
RefSeq Acc Id: ENST00000522002
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,048,579 - 133,074,953 (-)Ensembl
RefSeq Acc Id: ENST00000522119   ⟹   ENSP00000430596
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,044,992 - 133,102,477 (-)Ensembl
RefSeq Acc Id: ENST00000522432   ⟹   ENSP00000429844
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,049,927 - 133,075,035 (-)Ensembl
RefSeq Acc Id: ENST00000522946
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,063,674 - 133,102,542 (-)Ensembl
RefSeq Acc Id: ENST00000523224
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,047,105 - 133,074,959 (-)Ensembl
RefSeq Acc Id: ENST00000523610   ⟹   ENSP00000428087
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,050,856 - 133,102,542 (-)Ensembl
RefSeq Acc Id: ENST00000524345   ⟹   ENSP00000427928
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,038,367 - 133,102,628 (-)Ensembl
RefSeq Acc Id: NM_001045556   ⟹   NP_001039021
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,036,728 - 133,102,602 (-)NCBI
GRCh378134,048,973 - 134,115,604 (-)NCBI
Build 368134,118,155 - 134,184,479 (-)NCBI Archive
HuRef8129,368,758 - 129,435,010 (-)ENTREZGENE
CHM1_18134,089,636 - 134,155,921 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001045557   ⟹   NP_001039022
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,036,728 - 133,102,602 (-)NCBI
GRCh378134,048,973 - 134,115,604 (-)NCBI
Build 368134,118,155 - 134,184,479 (-)NCBI Archive
HuRef8129,368,758 - 129,435,010 (-)ENTREZGENE
CHM1_18134,089,636 - 134,155,921 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282964   ⟹   NP_001269893
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,036,728 - 133,102,602 (-)NCBI
HuRef8129,368,758 - 129,435,010 (-)NCBI
CHM1_18134,089,636 - 134,155,921 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282965   ⟹   NP_001269894
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,036,728 - 133,102,602 (-)NCBI
HuRef8129,368,758 - 129,435,010 (-)NCBI
CHM1_18134,089,636 - 134,155,921 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006748   ⟹   NP_006739
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,036,728 - 133,060,354 (-)NCBI
GRCh378134,048,973 - 134,115,604 (-)NCBI
Build 368134,118,155 - 134,141,785 (-)NCBI Archive
HuRef8129,368,758 - 129,435,010 (-)ENTREZGENE
CHM1_18134,089,636 - 134,113,228 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013739   ⟹   XP_016869228
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,036,728 - 133,103,053 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001039022   ⟸   NM_001045557
- Peptide Label: isoform b
- UniProtKB: Q13239 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001039021   ⟸   NM_001045556
- Peptide Label: isoform a
- UniProtKB: Q13239 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_006739   ⟸   NM_006748
- Peptide Label: isoform c
- UniProtKB: Q13239 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269894   ⟸   NM_001282965
- Peptide Label: isoform e
- UniProtKB: Q13239 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269893   ⟸   NM_001282964
- Peptide Label: isoform d
- UniProtKB: Q13239 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016869228   ⟸   XM_017013739
- Peptide Label: isoform X1
- UniProtKB: Q13239 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000428559   ⟸   ENST00000517648
RefSeq Acc Id: ENSP00000429681   ⟸   ENST00000519341
RefSeq Acc Id: ENSP00000428971   ⟸   ENST00000519747
RefSeq Acc Id: ENSP00000429143   ⟸   ENST00000519558
RefSeq Acc Id: ENSP00000394049   ⟸   ENST00000427060
RefSeq Acc Id: ENSP00000337548   ⟸   ENST00000338087
RefSeq Acc Id: ENSP00000430184   ⟸   ENST00000521302
RefSeq Acc Id: ENSP00000430596   ⟸   ENST00000522119
RefSeq Acc Id: ENSP00000429844   ⟸   ENST00000522432
RefSeq Acc Id: ENSP00000428087   ⟸   ENST00000523610
RefSeq Acc Id: ENSP00000427928   ⟸   ENST00000524345
RefSeq Acc Id: ENSP00000378759   ⟸   ENST00000395352
Protein Domains
SH2   SH3

Promoters
RGD ID:7214213
Promoter ID:EPDNEW_H12851
Type:initiation region
Name:SLA_2
Description:Src like adaptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12852  EPDNEW_H12853  EPDNEW_H12854  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,060,299 - 133,060,359EPDNEW
RGD ID:7214211
Promoter ID:EPDNEW_H12852
Type:initiation region
Name:SLA_1
Description:Src like adaptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12851  EPDNEW_H12853  EPDNEW_H12854  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,075,027 - 133,075,087EPDNEW
RGD ID:7214215
Promoter ID:EPDNEW_H12853
Type:initiation region
Name:SLA_3
Description:Src like adaptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12852  EPDNEW_H12851  EPDNEW_H12854  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,102,876 - 133,102,936EPDNEW
RGD ID:6807025
Promoter ID:HG_KWN:62140
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   Jurkat
Transcripts:NM_006748
Position:
Human AssemblyChrPosition (strand)Source
Build 368134,141,544 - 134,142,044 (-)MPROMDB
RGD ID:6807026
Promoter ID:HG_KWN:62141
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   NB4
Transcripts:UC010MDY.1,   UC010MDZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368134,156,301 - 134,156,852 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.21-24.22(chr8:129176782-134170188)x1 copy number loss See cases [RCV000050751] Chr8:129176782..134170188 [GRCh38]
Chr8:130189028..135182431 [GRCh37]
Chr8:130258210..135251613 [NCBI36]
Chr8:8q24.21-24.22
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.21-24.23(chr8:126626164-137169427)x1 copy number loss See cases [RCV000054306] Chr8:126626164..137169427 [GRCh38]
Chr8:127638409..138181670 [GRCh37]
Chr8:127707591..138250852 [NCBI36]
Chr8:8q24.21-24.23
pathogenic
NM_001045556.2(SLA):c.59A>T (p.Glu20Val) single nucleotide variant Malignant melanoma [RCV000068161] Chr8:133060102 [GRCh38]
Chr8:134072347 [GRCh37]
Chr8:134141529 [NCBI36]
Chr8:8q24.22
not provided
GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3 copy number gain See cases [RCV000133621] Chr8:130115518..141228210 [GRCh38]
Chr8:131127764..142238309 [GRCh37]
Chr8:131196946..142307491 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.22(chr8:132935590-133815152)x3 copy number gain See cases [RCV000143529] Chr8:132935590..133815152 [GRCh38]
Chr8:133947835..134827395 [GRCh37]
Chr8:134017017..134896577 [NCBI36]
Chr8:8q24.22
uncertain significance
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
NM_003235.5(TG):c.7501T>C (p.Trp2501Arg) single nucleotide variant Iodotyrosyl coupling defect [RCV000354501]|not specified [RCV000244259] Chr8:133096302 [GRCh38]
Chr8:134108546 [GRCh37]
Chr8:8q24.22
benign
NM_003235.5(TG):c.7408C>T (p.Leu2470=) single nucleotide variant Iodotyrosyl coupling defect [RCV000299677]|not specified [RCV000252113] Chr8:133096209 [GRCh38]
Chr8:134108453 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.7539C>T (p.Asp2513=) single nucleotide variant Iodotyrosyl coupling defect [RCV000259271]|not provided [RCV000958135] Chr8:133096340 [GRCh38]
Chr8:134108584 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.7264G>A (p.Ala2422Thr) single nucleotide variant Iodotyrosyl coupling defect [RCV000407987] Chr8:133095068 [GRCh38]
Chr8:134107312 [GRCh37]
Chr8:8q24.22
benign|likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22(chr8:134064220-134138660)x1 copy number loss See cases [RCV000448841] Chr8:134064220..134138660 [GRCh37]
Chr8:8q24.22
likely benign
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_003235.5(TG):c.7396C>G (p.Gln2466Glu) single nucleotide variant not specified [RCV000502203] Chr8:133095200 [GRCh38]
Chr8:134107444 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:133621137-140433338)x1 copy number loss not provided [RCV000747861] Chr8:133621137..140433338 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
NM_003235.5(TG):c.7335A>T (p.Ser2445=) single nucleotide variant Iodotyrosyl coupling defect [RCV001158803]|not provided [RCV000941136] Chr8:133095139 [GRCh38]
Chr8:134107383 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.7449C>T (p.Ile2483=) single nucleotide variant Iodotyrosyl coupling defect [RCV001160154]|not provided [RCV000897141] Chr8:133096250 [GRCh38]
Chr8:134108494 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.7521C>T (p.Leu2507=) single nucleotide variant not provided [RCV000885988] Chr8:133096322 [GRCh38]
Chr8:134108566 [GRCh37]
Chr8:8q24.22
likely benign
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NC_000008.10:g.(?_133141489)_(134296574_?)dup duplication Charcot-Marie-Tooth disease type 4 [RCV000804620] Chr8:133141489..134296574 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8q24.22(chr8:131915430-135240074)x1 copy number loss not provided [RCV000845974] Chr8:131915430..135240074 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NM_003235.5(TG):c.7414G>C (p.Val2472Leu) single nucleotide variant Iodotyrosyl coupling defect [RCV001158808]|not provided [RCV000947135] Chr8:133096215 [GRCh38]
Chr8:134108459 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.7569G>A (p.Val2523=) single nucleotide variant not provided [RCV000931593] Chr8:133096370 [GRCh38]
Chr8:134108614 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.7413C>T (p.Ala2471=) single nucleotide variant not provided [RCV000909268] Chr8:133096214 [GRCh38]
Chr8:134108458 [GRCh37]
Chr8:8q24.22
benign
NM_003235.5(TG):c.7266C>T (p.Ala2422=) single nucleotide variant not provided [RCV000902418] Chr8:133095070 [GRCh38]
Chr8:134107314 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.7405-9C>T single nucleotide variant Iodotyrosyl coupling defect [RCV001158806] Chr8:133096197 [GRCh38]
Chr8:134108441 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.7364G>A (p.Arg2455His) single nucleotide variant Iodotyrosyl coupling defect [RCV001158805]|not provided [RCV000913070] Chr8:133095168 [GRCh38]
Chr8:134107412 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.7414G>A (p.Val2472Met) single nucleotide variant Iodotyrosyl coupling defect [RCV001158807] Chr8:133096215 [GRCh38]
Chr8:134108459 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_003235.5(TG):c.7248C>T (p.Ser2416=) single nucleotide variant Iodotyrosyl coupling defect [RCV001163726] Chr8:133095052 [GRCh38]
Chr8:134107296 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.7363C>T (p.Arg2455Cys) single nucleotide variant Iodotyrosyl coupling defect [RCV001158804] Chr8:133095167 [GRCh38]
Chr8:134107411 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.7502G>A (p.Trp2501Ter) single nucleotide variant Iodotyrosyl coupling defect [RCV001333111] Chr8:133096303 [GRCh38]
Chr8:134108547 [GRCh37]
Chr8:8q24.22
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10902 AgrOrtholog
COSMIC SLA COSMIC
Ensembl Genes ENSG00000155926 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000337548 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000378759 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000394049 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427928 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428087 UniProtKB/TrEMBL
  ENSP00000428559 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428971 UniProtKB/TrEMBL
  ENSP00000429143 UniProtKB/TrEMBL
  ENSP00000429681 UniProtKB/TrEMBL
  ENSP00000429844 UniProtKB/TrEMBL
  ENSP00000430184 UniProtKB/TrEMBL
  ENSP00000430596 UniProtKB/TrEMBL
Ensembl Transcript ENST00000338087 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000395352 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000427060 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517648 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000519341 UniProtKB/TrEMBL
  ENST00000519558 UniProtKB/TrEMBL
  ENST00000519747 UniProtKB/TrEMBL
  ENST00000521302 UniProtKB/TrEMBL
  ENST00000522119 UniProtKB/TrEMBL
  ENST00000522432 UniProtKB/TrEMBL
  ENST00000523610 UniProtKB/TrEMBL
  ENST00000524345 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.505.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000155926 GTEx
HGNC ID HGNC:10902 ENTREZGENE
Human Proteome Map SLA Human Proteome Map
InterPro SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLAP_SH2 UniProtKB/Swiss-Prot
  SLAP_SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6503 UniProtKB/Swiss-Prot
NCBI Gene 6503 ENTREZGENE
OMIM 601099 OMIM
PANTHER PTHR24418:SF293 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35802 PharmGKB
PRINTS SH2DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55550 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E5RGG0_HUMAN UniProtKB/TrEMBL
  E5RH80_HUMAN UniProtKB/TrEMBL
  E5RHT2_HUMAN UniProtKB/TrEMBL
  E5RJ69_HUMAN UniProtKB/TrEMBL
  E5RJB0_HUMAN UniProtKB/TrEMBL
  E5RK29_HUMAN UniProtKB/TrEMBL
  E5RK95_HUMAN UniProtKB/TrEMBL
  Q13239 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B7Z4J2 UniProtKB/Swiss-Prot
  B7Z4L6 UniProtKB/Swiss-Prot
  Q6FI01 UniProtKB/Swiss-Prot
  Q9UMQ8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-12-20 SLA  Src like adaptor    Src-like-adaptor  Symbol and/or name change 5135510 APPROVED