TRAF1 (TNF receptor associated factor 1) - Rat Genome Database
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Gene: TRAF1 (TNF receptor associated factor 1) Homo sapiens
Analyze
Symbol: TRAF1
Name: TNF receptor associated factor 1
RGD ID: 1351243
HGNC Page HGNC
Description: Exhibits enzyme binding activity; identical protein binding activity; and tumor necrosis factor receptor binding activity. Involved in positive regulation of NF-kappaB transcription factor activity and regulation of extrinsic apoptotic signaling pathway. Predicted to localize to cytoplasmic side of plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: EBI6; Epstein-Bar virus-induced protein 6; epstein-Barr virus-induced protein 6; MGC:10353; TNF receptor-associated factor 1
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 Ensembl9120,902,393 - 120,929,173 (-)EnsemblGRCh38hg38GRCh38
GRCh389120,902,393 - 120,929,171 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh379123,664,671 - 123,691,449 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh379123,664,671 - 123,691,451 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369122,704,493 - 122,728,994 (-)NCBINCBI36hg18NCBI36
Build 349120,744,225 - 120,768,727NCBI
Celera994,313,094 - 94,339,873 (-)NCBI
Cytogenetic Map9q33.2NCBI
HuRef993,282,121 - 93,308,908 (-)NCBIHuRef
CHM1_19123,811,798 - 123,838,569 (-)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
(-)-demecolcine  (EXP)
1'-acetoxychavicol acetate  (EXP)
1,2-dichloroethane  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3',5-triiodo-L-thyronine  (EXP)
3-methylcholanthrene  (ISO)
4-hydroxyphenyl retinamide  (EXP)
4-nitroquinoline N-oxide  (ISO)
aflatoxin B1  (EXP)
arsenous acid  (EXP,ISO)
atrazine  (ISO)
bathocuproine disulfonic acid  (EXP)
benzo[a]pyrene  (EXP)
benzoates  (EXP)
berberine  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
calcitriol  (EXP)
cannabidiol  (ISO)
carbon nanotube  (ISO)
carmustine  (EXP)
cholesterol  (ISO)
cisplatin  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
crocidolite asbestos  (EXP)
curcumin  (EXP)
cyclosporin A  (EXP,ISO)
delta-tocotrienol  (ISO)
deoxynivalenol  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP,ISO)
dioscin  (EXP)
dioxygen  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
folic acid  (EXP)
formaldehyde  (EXP)
Fusarenone X  (ISO)
gemcitabine  (EXP)
guggulsterone  (EXP)
indole-3-methanol  (EXP)
ionomycin  (EXP)
irinotecan  (EXP)
lead diacetate  (ISO)
lipopolysaccharide  (ISO)
lonafarnib  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
N-nitrosodiethylamine  (ISO)
nickel sulfate  (EXP)
p-menthan-3-ol  (EXP)
paclitaxel  (EXP)
paracetamol  (ISO)
parthenolide  (EXP)
pemetrexed  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
pyrrolidine dithiocarbamate  (EXP)
quercetin  (ISO)
resveratrol  (EXP)
Rhein  (EXP)
rotenone  (ISO)
serpentine asbestos  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP)
succimer  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (ISO)
theophylline  (EXP)
titanium dioxide  (ISO)
urethane  (EXP)
vincristine  (EXP)
vinorelbine  (ISO)
vorinostat  (EXP)
zerumbone  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

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:7527023   PMID:7859281   PMID:8069916   PMID:8548810   PMID:8565075   PMID:8612133   PMID:8627180   PMID:8662842   PMID:8692885   PMID:8702708   PMID:8710854   PMID:8943045  
PMID:9104814   PMID:9151858   PMID:9162022   PMID:9168896   PMID:9208847   PMID:9275204   PMID:9300817   PMID:9384571   PMID:9418902   PMID:9464265   PMID:9488716   PMID:9500555  
PMID:9607925   PMID:9642260   PMID:9705938   PMID:9718306   PMID:9774460   PMID:9774977   PMID:9794406   PMID:9852070   PMID:9928991   PMID:10025951   PMID:10037686   PMID:10411888  
PMID:10514511   PMID:10544141   PMID:10635328   PMID:10692572   PMID:10809768   PMID:10837247   PMID:10903733   PMID:11035039   PMID:11098060   PMID:11181075   PMID:11278268   PMID:11279055  
PMID:11313261   PMID:11384837   PMID:11435475   PMID:11607847   PMID:11696595   PMID:11728344   PMID:11804591   PMID:11907583   PMID:12089335   PMID:12411322   PMID:12477932   PMID:12529173  
PMID:12709429   PMID:12887920   PMID:14557256   PMID:14743216   PMID:14981539   PMID:14982987   PMID:15084608   PMID:15383523   PMID:15489334   PMID:15707590   PMID:15941918   PMID:15944293  
PMID:16304992   PMID:16323247   PMID:16713569   PMID:16891304   PMID:17207965   PMID:17235653   PMID:17405906   PMID:17544371   PMID:17804836   PMID:17827388   PMID:17880261   PMID:18429822  
PMID:18432273   PMID:18434327   PMID:18576341   PMID:18593758   PMID:18625278   PMID:18759306   PMID:18794853   PMID:19023125   PMID:19110536   PMID:19116907   PMID:19180477   PMID:19287455  
PMID:19336370   PMID:19336421   PMID:19394292   PMID:19401279   PMID:19416238   PMID:19433411   PMID:19453261   PMID:19503088   PMID:19540595   PMID:19565500   PMID:19617629   PMID:19641626  
PMID:19674979   PMID:19698991   PMID:19714643   PMID:19741008   PMID:19795416   PMID:19902201   PMID:19913121   PMID:19918040   PMID:20030635   PMID:20049410   PMID:20056178   PMID:20138174  
PMID:20205706   PMID:20219786   PMID:20233754   PMID:20237496   PMID:20353580   PMID:20385093   PMID:20413583   PMID:20439292   PMID:20444755   PMID:20447407   PMID:20453842   PMID:20479942  
PMID:20498205   PMID:20614026   PMID:20628086   PMID:20797713   PMID:20800603   PMID:20822712   PMID:20856938   PMID:20962850   PMID:21048031   PMID:21153322   PMID:21383967   PMID:21492465  
PMID:21516116   PMID:21724995   PMID:21873635   PMID:21903422   PMID:21911467   PMID:21968398   PMID:21988832   PMID:22184633   PMID:22196377   PMID:22284611   PMID:22586175   PMID:22820624  
PMID:23088713   PMID:23125866   PMID:23242182   PMID:23321589   PMID:23333304   PMID:23381138   PMID:23414308   PMID:23524849   PMID:23543740   PMID:23710202   PMID:23798571   PMID:23918987  
PMID:24144456   PMID:24234752   PMID:24321457   PMID:24338224   PMID:24390342   PMID:24586810   PMID:24722188   PMID:24782177   PMID:24952347   PMID:25158810   PMID:25241761   PMID:25416956  
PMID:25500258   PMID:25533804   PMID:25566937   PMID:25834819   PMID:25996949   PMID:26186194   PMID:26221961   PMID:26615960   PMID:26860405   PMID:26871637   PMID:26969755   PMID:27060717  
PMID:27107012   PMID:27151821   PMID:27507811   PMID:27592369   PMID:27827325   PMID:27893701   PMID:28082808   PMID:28155233   PMID:28470428   PMID:28514442   PMID:28926524   PMID:29528567  
PMID:29748372   PMID:29875129   PMID:29892012   PMID:30021884   PMID:30173777   PMID:30561431   PMID:30619326   PMID:30948266   PMID:31515488   PMID:31570557   PMID:31666375   PMID:31942069  
PMID:32296183   PMID:32671611  


Genomics

Comparative Map Data
TRAF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl9120,902,393 - 120,929,173 (-)EnsemblGRCh38hg38GRCh38
GRCh389120,902,393 - 120,929,171 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh379123,664,671 - 123,691,449 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh379123,664,671 - 123,691,451 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369122,704,493 - 122,728,994 (-)NCBINCBI36hg18NCBI36
Build 349120,744,225 - 120,768,727NCBI
Celera994,313,094 - 94,339,873 (-)NCBI
Cytogenetic Map9q33.2NCBI
HuRef993,282,121 - 93,308,908 (-)NCBIHuRef
CHM1_19123,811,798 - 123,838,569 (-)NCBICHM1_1
Traf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39234,831,762 - 34,851,784 (-)NCBIGRCm39mm39
GRCm38234,941,750 - 34,961,812 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl234,941,750 - 34,961,772 (-)EnsemblGRCm38mm10GRCm38
MGSCv37234,798,778 - 34,817,292 (-)NCBIGRCm37mm9NCBIm37
MGSCv36234,765,267 - 34,783,781 (-)NCBImm8
Celera234,637,578 - 34,656,091 (-)NCBICelera
Cytogenetic Map2BNCBI
Traf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2318,222,024 - 18,242,163 (-)NCBI
Rnor_6.0 Ensembl314,003,340 - 14,022,672 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0314,003,340 - 14,022,955 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0319,323,420 - 19,343,090 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera312,939,551 - 12,955,889 (-)NCBICelera
Cytogenetic Map3p11NCBI
Traf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554197,121,382 - 7,137,763 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554197,117,869 - 7,145,274 (+)NCBIChiLan1.0ChiLan1.0
TRAF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.19120,376,592 - 120,403,185 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9120,376,592 - 120,402,948 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0992,030,205 - 92,056,776 (-)NCBIMhudiblu_PPA_v0panPan3
TRAF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1173,927,007 - 73,937,655 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11173,920,729 - 73,939,644 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Traf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049364879,349,883 - 9,368,946 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRAF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1260,949,111 - 260,973,709 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11260,948,191 - 260,973,978 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21293,049,905 - 293,062,803 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TRAF1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11218,647,131 - 18,672,685 (+)NCBI
ChlSab1.1 Ensembl1218,650,190 - 18,670,643 (+)Ensembl
Traf1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476014,423,735 - 14,445,033 (+)NCBI

Position Markers
SGC35347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379123,667,063 - 123,667,263UniSTSGRCh37
Build 369122,706,884 - 122,707,084RGDNCBI36
Celera994,315,486 - 94,315,686RGD
Cytogenetic Map9q33-q34UniSTS
HuRef993,284,513 - 93,284,713UniSTS
GeneMap99-GB4 RH Map9375.65UniSTS
Whitehead-RH Map9447.2UniSTS
RH17818  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379123,666,347 - 123,666,481UniSTSGRCh37
Build 369122,706,168 - 122,706,302RGDNCBI36
Celera994,314,770 - 94,314,904RGD
Cytogenetic Map9q33-q34UniSTS
HuRef993,283,797 - 93,283,931UniSTS
GeneMap99-GB4 RH Map9375.65UniSTS
SHGC-30554  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379123,665,232 - 123,665,357UniSTSGRCh37
Build 369122,705,053 - 122,705,178RGDNCBI36
Celera994,313,655 - 94,313,780RGD
Cytogenetic Map9q33-q34UniSTS
HuRef993,282,682 - 93,282,807UniSTS
TNG Radiation Hybrid Map946230.0UniSTS
GeneMap99-GB4 RH Map9373.88UniSTS
Whitehead-RH Map9447.2UniSTS
GeneMap99-G3 RH Map94191.0UniSTS
RH94100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,627,991 - 18,628,114UniSTSGRCh37
GRCh379123,670,419 - 123,670,542UniSTSGRCh37
Build 369122,710,240 - 122,710,363RGDNCBI36
Celera994,318,842 - 94,318,965RGD
Celera1118,762,870 - 18,762,993UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map11p15.1UniSTS
HuRef993,287,872 - 93,287,995UniSTS
HuRef1118,313,012 - 18,313,135UniSTS
GeneMap99-GB4 RH Map1167.0UniSTS
RH79125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379123,666,296 - 123,666,429UniSTSGRCh37
Build 369122,706,117 - 122,706,250RGDNCBI36
Celera994,314,719 - 94,314,852RGD
Cytogenetic Map9q33-q34UniSTS
HuRef993,283,746 - 93,283,879UniSTS
GeneMap99-GB4 RH Map9375.29UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4032
Count of miRNA genes:791
Interacting mature miRNAs:933
Transcripts:ENST00000373887, ENST00000540010, ENST00000546084
Prediction methods:Miranda, Rnahybrid
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1449 1802 1102 81 1376 44 2272 776 1087 128 770 1129 42 670 1550
Low 971 1174 615 537 560 415 2059 1375 2631 286 672 466 130 1 534 1219 1 1
Below cutoff 12 11 9 5 11 6 25 43 13 5 15 15 1 19 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000373887   ⟹   ENSP00000362994
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9120,902,393 - 120,926,796 (-)Ensembl
RefSeq Acc Id: ENST00000540010   ⟹   ENSP00000443183
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9120,902,393 - 120,929,173 (-)Ensembl
RefSeq Acc Id: ENST00000546084   ⟹   ENSP00000438583
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9120,902,393 - 120,914,572 (-)Ensembl
RefSeq Acc Id: NM_001190945   ⟹   NP_001177874
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389120,902,393 - 120,929,171 (-)NCBI
GRCh379123,664,671 - 123,691,451 (-)ENTREZGENE
HuRef993,282,121 - 93,308,908 (-)ENTREZGENE
CHM1_19123,811,798 - 123,838,569 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001190947   ⟹   NP_001177876
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389120,902,393 - 120,914,583 (-)NCBI
GRCh379123,664,671 - 123,691,451 (-)ENTREZGENE
HuRef993,282,121 - 93,308,908 (-)ENTREZGENE
CHM1_19123,811,798 - 123,823,970 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005658   ⟹   NP_005649
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389120,902,393 - 120,926,796 (-)NCBI
GRCh379123,664,671 - 123,691,451 (-)ENTREZGENE
Build 369122,704,493 - 122,728,994 (-)NCBI Archive
HuRef993,282,121 - 93,308,908 (-)ENTREZGENE
CHM1_19123,811,798 - 123,836,291 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001177874   ⟸   NM_001190945
- Peptide Label: isoform a
- UniProtKB: Q13077 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_005649   ⟸   NM_005658
- Peptide Label: isoform a
- UniProtKB: Q13077 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001177876   ⟸   NM_001190947
- Peptide Label: isoform b
- UniProtKB: Q13077 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000362994   ⟸   ENST00000373887
RefSeq Acc Id: ENSP00000438583   ⟸   ENST00000546084
RefSeq Acc Id: ENSP00000443183   ⟸   ENST00000540010
Protein Domains
MATH

Promoters
RGD ID:7216031
Promoter ID:EPDNEW_H13761
Type:initiation region
Name:TRAF1_1
Description:TNF receptor associated factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13762  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389120,926,163 - 120,926,223EPDNEW
RGD ID:7216033
Promoter ID:EPDNEW_H13762
Type:initiation region
Name:TRAF1_2
Description:TNF receptor associated factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13761  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389120,929,154 - 120,929,214EPDNEW
RGD ID:6814431
Promoter ID:HG_MGC:995
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Lymphoblastoid
Transcripts:BC024145
Position:
Human AssemblyChrPosition (strand)Source
Build 369122,727,946 - 122,728,597 (-)MPROMDB
RGD ID:6808316
Promoter ID:HG_KWN:64744
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000053843,   UC010MVL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369122,728,691 - 122,731,362 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_001190945.1(TRAF1):c.1161C>T (p.Phe387=) single nucleotide variant Malignant melanoma [RCV000068520] Chr9:120905110 [GRCh38]
Chr9:123667388 [GRCh37]
Chr9:122707209 [NCBI36]
Chr9:9q33.2		 not provided
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)x1 copy number loss See cases [RCV000447763] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_005658.5(TRAF1):c.1020C>T (p.Pro340=) single nucleotide variant not specified [RCV000455679] Chr9:120909242 [GRCh38]
Chr9:123671520 [GRCh37]
Chr9:9q33.2		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.3-33.3(chr9:113083182-126779494)x1 copy number loss not provided [RCV000748606] Chr9:113083182..126779494 [GRCh37]
Chr9:9q31.3-33.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_005658.5(TRAF1):c.459C>T (p.Ala153=) single nucleotide variant not provided [RCV000918205] Chr9:120913574 [GRCh38]
Chr9:123675852 [GRCh37]
Chr9:9q33.2		 likely benign
NM_005658.5(TRAF1):c.927G>A (p.Leu309=) single nucleotide variant not provided [RCV000962392] Chr9:120909335 [GRCh38]
Chr9:123671613 [GRCh37]
Chr9:9q33.2		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12031 AgrOrtholog
COSMIC TRAF1 COSMIC
Ensembl Genes ENSG00000056558 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000362994 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000438583 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000443183 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000373887 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000540010 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000546084 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.210.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000056558 GTEx
HGNC ID HGNC:12031 ENTREZGENE
Human Proteome Map TRAF1 Human Proteome Map
InterPro MATH/TRAF_dom UniProtKB/Swiss-Prot
  TNF_rcpt--assoc_TRAF UniProtKB/Swiss-Prot
  TNF_rcpt-assoc_TRAF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRAF-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRAF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRAF1_MATH UniProtKB/Swiss-Prot
  TRAF_BIRC3-bd UniProtKB/Swiss-Prot
KEGG Report hsa:7185 UniProtKB/Swiss-Prot
NCBI Gene 7185 ENTREZGENE
OMIM 601711 OMIM
PANTHER PTHR10131 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10131:SF96 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TRAF_BIRC3_bd UniProtKB/Swiss-Prot
PharmGKB PA36708 PharmGKB
PIRSF TRAF UniProtKB/Swiss-Prot
PROSITE MATH UniProtKB/Swiss-Prot
SMART MATH UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49599 UniProtKB/Swiss-Prot
UniProt A0A6G8IRL2_HUMAN UniProtKB/TrEMBL
  Q13077 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4DJ77 UniProtKB/Swiss-Prot
  Q658U1 UniProtKB/Swiss-Prot
  Q8NF13 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 TRAF1  TNF receptor associated factor 1    TNF receptor-associated factor 1  Symbol and/or name change 5135510 APPROVED