TBC1D31 (TBC1 domain family member 31) - Rat Genome Database

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Gene: TBC1D31 (TBC1 domain family member 31) Homo sapiens
Analyze
Symbol: TBC1D31
Name: TBC1 domain family member 31
RGD ID: 1603593
HGNC Page HGNC
Description: Localizes to centrosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; aflatoxin B1.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: Gm85; MGC104222; MGC126773; MGC138159; MGC21654; TBC1 domain family, member 31; WD repeat domain 67; WD repeat-containing protein 67; WDR67
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 Ensembl8123,041,968 - 123,152,153 (+)EnsemblGRCh38hg38GRCh38
GRCh388123,041,961 - 123,165,173 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378124,084,947 - 124,177,413 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368124,154,101 - 124,233,571 (+)NCBINCBI36hg18NCBI36
Celera8120,273,958 - 120,353,417 (+)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8119,410,361 - 119,489,629 (+)NCBIHuRef
CHM1_18124,125,187 - 124,204,674 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
centrosome  (IBA,IDA)

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:20379614   PMID:21399614   PMID:21873635   PMID:25281560   PMID:26186194   PMID:26496610   PMID:26638075   PMID:27880917   PMID:28514442  
PMID:28718761   PMID:29395067   PMID:30033366   PMID:30561431   PMID:30631154   PMID:31462741  


Genomics

Comparative Map Data
TBC1D31
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8123,041,968 - 123,152,153 (+)EnsemblGRCh38hg38GRCh38
GRCh388123,041,961 - 123,165,173 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378124,084,947 - 124,177,413 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368124,154,101 - 124,233,571 (+)NCBINCBI36hg18NCBI36
Celera8120,273,958 - 120,353,417 (+)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8119,410,361 - 119,489,629 (+)NCBIHuRef
CHM1_18124,125,187 - 124,204,674 (+)NCBICHM1_1
Tbc1d31
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391557,775,081 - 57,833,464 (+)NCBIGRCm39mm39
GRCm39 Ensembl1557,775,595 - 57,833,463 (+)Ensembl
GRCm381557,911,685 - 57,970,068 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1557,912,199 - 57,970,067 (+)EnsemblGRCm38mm10GRCm38
MGSCv371557,743,754 - 57,801,623 (+)NCBIGRCm37mm9NCBIm37
MGSCv361557,742,282 - 57,800,151 (+)NCBImm8
Celera1559,432,866 - 59,490,790 (+)NCBICelera
Cytogenetic Map15D1NCBI
Tbc1d31
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2789,427,354 - 89,506,894 (+)NCBI
Rnor_6.0 Ensembl797,760,134 - 97,839,668 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0797,778,260 - 97,839,668 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0798,385,290 - 98,446,226 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4794,615,000 - 94,676,965 (+)NCBIRGSC3.4rn4RGSC3.4
Celera786,218,671 - 86,279,485 (+)NCBICelera
Cytogenetic Map7q33NCBI
Tbc1d31
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555401,964,408 - 2,048,283 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555401,964,313 - 2,045,350 (+)NCBIChiLan1.0ChiLan1.0
TBC1D31
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18122,521,713 - 122,601,373 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8122,521,780 - 122,601,373 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08119,736,332 - 119,859,216 (+)NCBIMhudiblu_PPA_v0panPan3
TBC1D31
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11321,475,094 - 21,543,380 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1321,473,751 - 21,543,380 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1321,440,694 - 21,508,901 (+)NCBI
ROS_Cfam_1.01321,811,741 - 21,880,036 (+)NCBI
UMICH_Zoey_3.11321,540,192 - 21,608,370 (+)NCBI
UNSW_CanFamBas_1.01321,645,672 - 21,713,830 (+)NCBI
UU_Cfam_GSD_1.01321,888,202 - 21,956,698 (+)NCBI
Tbc1d31
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530316,738,567 - 16,809,975 (-)NCBI
SpeTri2.0NW_00493647024,164,666 - 24,236,091 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TBC1D31
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl416,214,897 - 16,287,819 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1416,215,420 - 16,287,809 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2416,999,345 - 17,046,955 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TBC1D31
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18117,650,521 - 117,728,942 (+)NCBI
Tbc1d31
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473531,725,736 - 31,822,101 (-)NCBI

Position Markers
G36153  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,157,910 - 124,158,149UniSTSGRCh37
GRCh371437,179,557 - 37,179,674UniSTSGRCh37
Build 368124,227,091 - 124,227,330RGDNCBI36
Celera1417,043,105 - 17,043,222UniSTS
Celera8120,346,934 - 120,347,173RGD
HuRef1417,293,926 - 17,294,043UniSTS
HuRef982,418,731 - 82,418,964UniSTS
HuRef8119,483,128 - 119,483,367UniSTS
RH47838  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,116,242 - 124,116,399UniSTSGRCh37
Build 368124,185,423 - 124,185,580RGDNCBI36
Celera8120,305,269 - 120,305,426RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,441,673 - 119,441,830UniSTS
GeneMap99-GB4 RH Map8474.57UniSTS
NCBI RH Map81459.3UniSTS
G17232  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,146,960 - 124,147,118UniSTSGRCh37
Build 368124,216,141 - 124,216,299RGDNCBI36
Celera8120,335,981 - 120,336,139RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,472,177 - 119,472,335UniSTS
SHGC-80920  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,127,200 - 124,127,508UniSTSGRCh37
Build 368124,196,381 - 124,196,689RGDNCBI36
Celera8120,316,227 - 120,316,535RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,452,407 - 119,452,715UniSTS
TNG Radiation Hybrid Map859951.0UniSTS
RH68014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,164,078 - 124,164,354UniSTSGRCh37
Build 368124,233,259 - 124,233,535RGDNCBI36
Celera8120,353,102 - 120,353,378RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,489,314 - 119,489,590UniSTS
GeneMap99-GB4 RH Map8477.8UniSTS
NCBI RH Map81470.6UniSTS
D13S1728  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,151,750 - 124,151,952UniSTSGRCh37
GRCh371333,512,496 - 33,512,702UniSTSGRCh37
Build 368124,220,931 - 124,221,133RGDNCBI36
Celera8120,340,772 - 120,340,974RGD
Celera1314,579,310 - 14,579,516UniSTS
HuRef1314,323,584 - 14,323,790UniSTS
HuRef8119,476,968 - 119,477,170UniSTS
D10S275  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map6q24UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map20pter-q11.23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11p14.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map6q12-q13UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIRLET7Ehsa-let-7e-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:3691
Count of miRNA genes:1223
Interacting mature miRNAs:1506
Transcripts:ENST00000287380, ENST00000309336, ENST00000327098, ENST00000378080, ENST00000518099, ENST00000518577, ENST00000518684, ENST00000518805, ENST00000518866, ENST00000519418, ENST00000520368, ENST00000521676, ENST00000521914, ENST00000521980, ENST00000522276, ENST00000522420, ENST00000524307
Prediction methods:Microtar, 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 35 2 13 5 195 7 181 34 53 15 99 110 4
Low 2395 2727 1615 535 1613 374 4077 2007 3628 385 1359 1499 170 1 1197 2692 6 2
Below cutoff 9 262 98 84 143 84 98 156 53 19 2 4 7 96

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001145088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC068228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC100873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG771416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ436515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA429516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U43374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000287380   ⟹   ENSP00000287380
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,072,707 - 123,152,153 (+)Ensembl
RefSeq Acc Id: ENST00000327098   ⟹   ENSP00000312701
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,072,713 - 123,151,954 (+)Ensembl
RefSeq Acc Id: ENST00000518099
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,072,723 - 123,101,087 (+)Ensembl
RefSeq Acc Id: ENST00000518577   ⟹   ENSP00000432064
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,109,334 - 123,129,172 (+)Ensembl
RefSeq Acc Id: ENST00000518684   ⟹   ENSP00000427848
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,074,920 - 123,093,639 (+)Ensembl
RefSeq Acc Id: ENST00000518805   ⟹   ENSP00000429494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,100,953 - 123,152,153 (+)Ensembl
RefSeq Acc Id: ENST00000518866
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,127,850 - 123,142,456 (+)Ensembl
RefSeq Acc Id: ENST00000519418   ⟹   ENSP00000430927
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,072,682 - 123,109,620 (+)Ensembl
RefSeq Acc Id: ENST00000520368   ⟹   ENSP00000428486
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,041,968 - 123,084,269 (+)Ensembl
RefSeq Acc Id: ENST00000521676   ⟹   ENSP00000430628
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,072,759 - 123,152,153 (+)Ensembl
RefSeq Acc Id: ENST00000521914   ⟹   ENSP00000432525
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,093,661 - 123,104,201 (+)Ensembl
RefSeq Acc Id: ENST00000521980
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,082,508 - 123,097,848 (+)Ensembl
RefSeq Acc Id: ENST00000522276   ⟹   ENSP00000428891
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,073,249 - 123,097,383 (+)Ensembl
RefSeq Acc Id: ENST00000522420   ⟹   ENSP00000429334
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,072,713 - 123,151,964 (+)Ensembl
RefSeq Acc Id: ENST00000524307   ⟹   ENSP00000440772
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,072,766 - 123,152,150 (+)Ensembl
RefSeq Acc Id: NM_001145088   ⟹   NP_001138560
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,072,707 - 123,152,153 (+)NCBI
GRCh378124,084,920 - 124,164,393 (+)RGD
GRCh378124,084,920 - 124,164,393 (+)NCBI
Celera8120,273,958 - 120,353,417 (+)RGD
HuRef8119,410,361 - 119,489,629 (+)RGD
CHM1_18124,125,187 - 124,204,674 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330606   ⟹   NP_001317535
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,072,707 - 123,152,153 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363148   ⟹   NP_001350077
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,072,707 - 123,152,153 (+)NCBI
RefSeq Acc Id: NM_001363149   ⟹   NP_001350078
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,073,249 - 123,152,153 (+)NCBI
RefSeq Acc Id: NM_001363150   ⟹   NP_001350079
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,072,707 - 123,152,153 (+)NCBI
RefSeq Acc Id: NM_001363151   ⟹   NP_001350080
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,072,707 - 123,165,173 (+)NCBI
RefSeq Acc Id: NM_001363152   ⟹   NP_001350081
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,072,707 - 123,152,153 (+)NCBI
RefSeq Acc Id: NM_001363153   ⟹   NP_001350082
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,072,707 - 123,152,153 (+)NCBI
RefSeq Acc Id: NM_001363154   ⟹   NP_001350083
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,072,707 - 123,152,153 (+)NCBI
RefSeq Acc Id: NM_001363155   ⟹   NP_001350084
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,072,707 - 123,152,153 (+)NCBI
RefSeq Acc Id: NM_001363156   ⟹   NP_001350085
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,072,707 - 123,152,153 (+)NCBI
RefSeq Acc Id: NM_145647   ⟹   NP_663622
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,072,707 - 123,152,153 (+)NCBI
GRCh378124,084,920 - 124,164,393 (+)RGD
GRCh378124,084,920 - 124,164,393 (+)NCBI
Build 368124,154,101 - 124,233,571 (+)NCBI Archive
Celera8120,273,958 - 120,353,417 (+)RGD
HuRef8119,410,361 - 119,489,629 (+)RGD
CHM1_18124,125,187 - 124,204,674 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005251104   ⟹   XP_005251161
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,072,680 - 123,152,153 (+)NCBI
GRCh378124,084,920 - 124,164,393 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517379   ⟹   XP_011515681
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,072,680 - 123,165,169 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013984   ⟹   XP_016869473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,041,961 - 123,152,153 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001745622
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,072,680 - 123,142,354 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001745623
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,072,680 - 123,144,805 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001745625
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,041,985 - 123,152,153 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002956653
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,072,766 - 123,152,153 (+)NCBI
Sequence:
RefSeq Acc Id: XR_928364
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,072,680 - 123,152,153 (+)NCBI
Sequence:
RefSeq Acc Id: XR_928365
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,072,680 - 123,152,153 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001138560 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317535 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350077 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350078 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350079 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350080 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350081 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350082 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350083 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350084 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350085 (Get FASTA)   NCBI Sequence Viewer  
  NP_663622 (Get FASTA)   NCBI Sequence Viewer  
  XP_005251161 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515681 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869473 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH26969 (Get FASTA)   NCBI Sequence Viewer  
  AAH27237 (Get FASTA)   NCBI Sequence Viewer  
  AAI01725 (Get FASTA)   NCBI Sequence Viewer  
  AAI05801 (Get FASTA)   NCBI Sequence Viewer  
  AAI11955 (Get FASTA)   NCBI Sequence Viewer  
  AAI43526 (Get FASTA)   NCBI Sequence Viewer  
  BAB71182 (Get FASTA)   NCBI Sequence Viewer  
  BAC04384 (Get FASTA)   NCBI Sequence Viewer  
  EAW92018 (Get FASTA)   NCBI Sequence Viewer  
  EAW92019 (Get FASTA)   NCBI Sequence Viewer  
  EAW92020 (Get FASTA)   NCBI Sequence Viewer  
  EAW92021 (Get FASTA)   NCBI Sequence Viewer  
  Q96DN5 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001138560   ⟸   NM_001145088
- Peptide Label: isoform 2
- UniProtKB: Q96DN5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_663622   ⟸   NM_145647
- Peptide Label: isoform 1
- UniProtKB: Q96DN5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005251161   ⟸   XM_005251104
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011515681   ⟸   XM_011517379
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016869473   ⟸   XM_017013984
- Peptide Label: isoform X7
- UniProtKB: E7ERK7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317535   ⟸   NM_001330606
- Peptide Label: isoform 3
- UniProtKB: E7ERK7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001350080   ⟸   NM_001363151
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001350077   ⟸   NM_001363148
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001350079   ⟸   NM_001363150
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001350082   ⟸   NM_001363153
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001350084   ⟸   NM_001363155
- Peptide Label: isoform 11
RefSeq Acc Id: NP_001350081   ⟸   NM_001363152
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001350083   ⟸   NM_001363154
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001350085   ⟸   NM_001363156
- Peptide Label: isoform 12
RefSeq Acc Id: NP_001350078   ⟸   NM_001363149
- Peptide Label: isoform 5
RefSeq Acc Id: ENSP00000429494   ⟸   ENST00000518805
RefSeq Acc Id: ENSP00000427848   ⟸   ENST00000518684
RefSeq Acc Id: ENSP00000432064   ⟸   ENST00000518577
RefSeq Acc Id: ENSP00000430927   ⟸   ENST00000519418
RefSeq Acc Id: ENSP00000428486   ⟸   ENST00000520368
RefSeq Acc Id: ENSP00000430628   ⟸   ENST00000521676
RefSeq Acc Id: ENSP00000432525   ⟸   ENST00000521914
RefSeq Acc Id: ENSP00000428891   ⟸   ENST00000522276
RefSeq Acc Id: ENSP00000429334   ⟸   ENST00000522420
RefSeq Acc Id: ENSP00000287380   ⟸   ENST00000287380
RefSeq Acc Id: ENSP00000312701   ⟸   ENST00000327098
RefSeq Acc Id: ENSP00000440772   ⟸   ENST00000524307
Protein Domains
Rab-GAP TBC   WD_REPEATS_REGION

Promoters
RGD ID:7214103
Promoter ID:EPDNEW_H12798
Type:initiation region
Name:TBC1D31_1
Description:TBC1 domain family member 31
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,072,736 - 123,072,796EPDNEW
RGD ID:6806660
Promoter ID:HG_KWN:62012
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000309336,   ENST00000327098,   ENST00000378080,   NM_001145088,   NM_145647,   UC003YPO.1,   UC003YPQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368124,153,914 - 124,154,414 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 8q24.13(chr8:122751607-123361569)x3 copy number gain See cases [RCV000050761] Chr8:122751607..123361569 [GRCh38]
Chr8:123763846..124373809 [GRCh37]
Chr8:123833027..124442990 [NCBI36]
Chr8:8q24.13
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 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 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3 copy number gain See cases [RCV000133620] Chr8:122454392..128513076 [GRCh38]
Chr8:123466631..129525322 [GRCh37]
Chr8:123535812..129594504 [NCBI36]
Chr8:8q24.13-24.21
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 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 8q21.3-24.3(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 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 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 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 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 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
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 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 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
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
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
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 8q24.13-24.22(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
GRCh37/hg19 8q24.13-24.21(chr8:123074293-131113892)x1 copy number loss not provided [RCV000848164] Chr8:123074293..131113892 [GRCh37]
Chr8:8q24.13-24.21
pathogenic
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 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.12-24.13(chr8:121938227-125485728)x1 copy number loss not provided [RCV001281354] Chr8:121938227..125485728 [GRCh37]
Chr8:8q24.12-24.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30888 AgrOrtholog
COSMIC TBC1D31 COSMIC
Ensembl Genes ENSG00000156787 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000287380 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000312701 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427848 UniProtKB/TrEMBL
  ENSP00000428486 UniProtKB/TrEMBL
  ENSP00000428891 UniProtKB/TrEMBL
  ENSP00000429334 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000429494 UniProtKB/TrEMBL
  ENSP00000430628 UniProtKB/TrEMBL
  ENSP00000430927 UniProtKB/TrEMBL
  ENSP00000432064 UniProtKB/TrEMBL
  ENSP00000432525 UniProtKB/TrEMBL
  ENSP00000440772 UniProtKB/TrEMBL
Ensembl Transcript ENST00000287380 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000327098 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000518577 UniProtKB/TrEMBL
  ENST00000518684 UniProtKB/TrEMBL
  ENST00000518805 UniProtKB/TrEMBL
  ENST00000519418 UniProtKB/TrEMBL
  ENST00000520368 UniProtKB/TrEMBL
  ENST00000521676 UniProtKB/TrEMBL
  ENST00000521914 UniProtKB/TrEMBL
  ENST00000522276 UniProtKB/TrEMBL
  ENST00000522420 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000524307 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000156787 GTEx
HGNC ID HGNC:30888 ENTREZGENE
Human Proteome Map TBC1D31 Human Proteome Map
InterPro Rab-GTPase-TBC_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rab-GTPase_TBC_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:93594 UniProtKB/Swiss-Prot
NCBI Gene 93594 ENTREZGENE
Pfam RabGAP-TBC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/TrEMBL
PharmGKB PA142670600 PharmGKB
PROSITE TBC_RABGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_2 UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47923 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E5RFG6_HUMAN UniProtKB/TrEMBL
  E5RG45_HUMAN UniProtKB/TrEMBL
  E5RHC6_HUMAN UniProtKB/TrEMBL
  E5RI27_HUMAN UniProtKB/TrEMBL
  E5RI94_HUMAN UniProtKB/TrEMBL
  E7ERK7 ENTREZGENE, UniProtKB/TrEMBL
  E7EWW7_HUMAN UniProtKB/TrEMBL
  F5GYF1_HUMAN UniProtKB/TrEMBL
  H0YCP2_HUMAN UniProtKB/TrEMBL
  H0YCY3_HUMAN UniProtKB/TrEMBL
  Q96DN5 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B7ZL19 UniProtKB/Swiss-Prot
  Q2M2J9 UniProtKB/Swiss-Prot
  Q3MIR6 UniProtKB/Swiss-Prot
  Q8TBP9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 TBC1D31  TBC1 domain family member 31    TBC1 domain family, member 31  Symbol and/or name change 5135510 APPROVED
2013-07-16 TBC1D31  TBC1 domain family, member 31  WDR67  WD repeat domain 67  Symbol and/or name change 5135510 APPROVED