C8orf76 (chromosome 8 open reading frame 76) - Rat Genome Database

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Gene: C8orf76 (chromosome 8 open reading frame 76) Homo sapiens
Analyze
Symbol: C8orf76
Name: chromosome 8 open reading frame 76
RGD ID: 1602854
HGNC Page HGNC
Description: ASSOCIATED WITH trichorhinophalangeal syndrome type I; INTERACTS WITH benzene; benzo[a]pyrene; cyclosporin A
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: FLJ14825; hypothetical protein LOC84933; MGC9784; uncharacterized protein C8orf76
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 Ensembl8123,219,967 - 123,241,377 (-)EnsemblGRCh38hg38GRCh38
GRCh388123,219,967 - 123,241,377 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378124,232,207 - 124,253,617 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368124,301,412 - 124,322,798 (-)NCBINCBI36hg18NCBI36
Celera8120,421,270 - 120,442,656 (-)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8119,557,816 - 119,579,268 (-)NCBIHuRef
CHM1_18124,272,483 - 124,293,925 (-)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
References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:12477932   PMID:14702039   PMID:15489334   PMID:19416867   PMID:20379614   PMID:25356737   PMID:30733230  


Genomics

Comparative Map Data
C8orf76
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8123,219,967 - 123,241,377 (-)EnsemblGRCh38hg38GRCh38
GRCh388123,219,967 - 123,241,377 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378124,232,207 - 124,253,617 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368124,301,412 - 124,322,798 (-)NCBINCBI36hg18NCBI36
Celera8120,421,270 - 120,442,656 (-)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8119,557,816 - 119,579,268 (-)NCBIHuRef
CHM1_18124,272,483 - 124,293,925 (-)NCBICHM1_1
9130401M01Rik
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391557,885,666 - 57,897,690 (-)NCBIGRCm39mm39
GRCm39 Ensembl1557,891,639 - 57,939,821 (-)Ensembl
GRCm39 Ensembl1557,885,655 - 57,897,721 (-)Ensembl
GRCm381558,022,270 - 58,034,294 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1558,028,243 - 58,076,425 (-)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl1558,022,259 - 58,034,325 (-)EnsemblGRCm38mm10GRCm38
MGSCv371557,853,825 - 57,865,849 (-)NCBIGRCm37mm9NCBIm37
MGSCv361557,847,890 - 57,864,299 (-)NCBImm8
Celera1559,542,292 - 59,554,316 (-)NCBICelera
Cytogenetic Map15D1NCBI
RGD1310852
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2789,558,890 - 89,569,810 (-)NCBI
Rnor_6.0 Ensembl797,889,517 - 97,944,151 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0797,891,723 - 97,902,585 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0798,498,308 - 98,509,170 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4794,729,977 - 94,740,627 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1794,764,207 - 94,774,857 (-)NCBI
Celera786,331,456 - 86,342,319 (-)NCBICelera
Cytogenetic Map7q33NCBI
LOC102028896
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555402,097,912 - 2,115,921 (-)NCBIChiLan1.0ChiLan1.0
C8H8orf76
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18122,672,133 - 122,695,029 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8122,672,133 - 122,695,029 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08119,915,810 - 119,938,583 (-)NCBIMhudiblu_PPA_v0panPan3
C13H8orf76
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11321,599,283 - 21,619,386 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1321,599,501 - 21,644,897 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1321,564,486 - 21,584,455 (-)NCBI
ROS_Cfam_1.01321,938,854 - 21,958,883 (-)NCBI
UMICH_Zoey_3.11321,667,500 - 21,687,443 (-)NCBI
UNSW_CanFamBas_1.01321,770,140 - 21,790,134 (-)NCBI
UU_Cfam_GSD_1.01322,013,349 - 22,033,352 (-)NCBI
CUNH8orf76
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530316,667,232 - 16,685,628 (+)NCBI
SpeTri2.0NW_00493647024,093,346 - 24,110,514 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C4H8orf76
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl416,137,193 - 16,158,262 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1416,137,177 - 16,161,853 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2416,881,292 - 16,905,699 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CUNH8orf76
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18117,797,430 - 117,820,289 (-)NCBI
ChlSab1.1 Ensembl8117,797,309 - 117,820,044 (-)Ensembl
CUNH8orf76
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473531,691,290 - 31,706,981 (+)NCBI

Position Markers
RH93745  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,238,486 - 124,238,634UniSTSGRCh37
Build 368124,307,667 - 124,307,815RGDNCBI36
Celera8120,427,525 - 120,427,673RGD
Cytogenetic Map8qUniSTS
Cytogenetic Map8q24.13UniSTS
HuRef8119,564,106 - 119,564,254UniSTS
GeneMap99-GB4 RH Map8477.8UniSTS
RH80528  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,233,867 - 124,234,108UniSTSGRCh37
GRCh371544,784,258 - 44,784,494UniSTSGRCh37
Build 368124,303,048 - 124,303,289RGDNCBI36
Celera8120,422,906 - 120,423,147RGD
Celera1521,674,015 - 21,674,251UniSTS
HuRef1092,155,294 - 92,155,701UniSTS
HuRef8119,559,487 - 119,559,728UniSTS
HuRef1521,607,199 - 21,607,435UniSTS
GeneMap99-GB4 RH Map15168.84UniSTS
STS-AA032013  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,250,663 - 124,250,814UniSTSGRCh37
Build 368124,319,844 - 124,319,995RGDNCBI36
Celera8120,439,702 - 120,439,853RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,576,293 - 119,576,444UniSTS
GeneMap99-GB4 RH Map8472.52UniSTS
NCBI RH Map81472.9UniSTS
STS-N32331  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,232,348 - 124,232,483UniSTSGRCh37
Build 368124,301,529 - 124,301,664RGDNCBI36
Celera8120,421,387 - 120,421,522RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,557,968 - 119,558,103UniSTS
GeneMap99-GB4 RH Map8476.41UniSTS
RH48703  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,240,044 - 124,240,223UniSTSGRCh37
Build 368124,309,225 - 124,309,404RGDNCBI36
Celera8120,429,083 - 120,429,262RGD
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q24.13UniSTS
HuRef8119,565,664 - 119,565,843UniSTS
GeneMap99-GB4 RH Map8476.41UniSTS
NCBI RH Map81461.6UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:932
Count of miRNA genes:657
Interacting mature miRNAs:728
Transcripts:ENST00000276704, ENST00000517760, ENST00000518996, ENST00000519791, ENST00000521310, ENST00000522477, ENST00000523726
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2036 1612 1365 330 927 171 3437 1377 2171 80 1272 1439 168 1165 2194 2
Low 403 1379 361 294 1024 294 920 820 1563 339 188 174 6 1 39 594 4 2
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000276704   ⟹   ENSP00000276704
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,219,967 - 123,241,377 (-)Ensembl
RefSeq Acc Id: ENST00000517760
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,226,360 - 123,231,592 (-)Ensembl
RefSeq Acc Id: ENST00000518996
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,231,404 - 123,239,386 (-)Ensembl
RefSeq Acc Id: ENST00000519791
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,220,195 - 123,241,286 (-)Ensembl
RefSeq Acc Id: ENST00000521310
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,226,498 - 123,241,344 (-)Ensembl
RefSeq Acc Id: ENST00000522477
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,239,640 - 123,241,377 (-)Ensembl
RefSeq Acc Id: ENST00000523726
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,238,569 - 123,241,355 (-)Ensembl
RefSeq Acc Id: NM_032847   ⟹   NP_116236
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,219,967 - 123,241,377 (-)NCBI
GRCh378124,232,196 - 124,253,656 (-)NCBI
Build 368124,301,412 - 124,322,798 (-)NCBI Archive
Celera8120,421,270 - 120,442,656 (-)RGD
HuRef8119,557,816 - 119,579,268 (-)ENTREZGENE
CHM1_18124,272,483 - 124,293,925 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_116236 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH67796 (Get FASTA)   NCBI Sequence Viewer  
  BAB55327 (Get FASTA)   NCBI Sequence Viewer  
  BAD96380 (Get FASTA)   NCBI Sequence Viewer  
  EAW92026 (Get FASTA)   NCBI Sequence Viewer  
  Q96K31 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_116236   ⟸   NM_032847
- UniProtKB: Q96K31 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000276704   ⟸   ENST00000276704

Promoters
RGD ID:7214109
Promoter ID:EPDNEW_H12801
Type:initiation region
Name:C8orf76_1
Description:chromosome 8 open reading frame 76
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,241,377 - 123,241,437EPDNEW
RGD ID:6806540
Promoter ID:HG_KWN:62021
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000357082
Position:
Human AssemblyChrPosition (strand)Source
Build 368124,321,931 - 124,322,431 (-)MPROMDB
RGD ID:6806541
Promoter ID:HG_KWN:62022
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:NM_032847
Position:
Human AssemblyChrPosition (strand)Source
Build 368124,322,491 - 124,322,991 (-)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(chr8:158991-146280828)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(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
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 8q24.13(chr8:124238872-124416004)x1 copy number loss not provided [RCV000747810] Chr8:124238872..124416004 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8q24.13(chr8:124243771-124440262)x3 copy number gain not provided [RCV000747811] Chr8:124243771..124440262 [GRCh37]
Chr8:8q24.13
benign
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 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 8q24.12-24.3(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:25924 AgrOrtholog
COSMIC C8orf76 COSMIC
Ensembl Genes ENSG00000189376 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000276704 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000276704 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000189376 GTEx
HGNC ID HGNC:25924 ENTREZGENE
Human Proteome Map C8orf76 Human Proteome Map
InterPro DUF5588 UniProtKB/Swiss-Prot
  TPR-like_helical_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:84933 UniProtKB/Swiss-Prot
NCBI Gene 84933 ENTREZGENE
PANTHER PTHR31919 UniProtKB/Swiss-Prot
Pfam DUF5588 UniProtKB/Swiss-Prot
PharmGKB PA142672339 PharmGKB
Superfamily-SCOP SSF48452 UniProtKB/Swiss-Prot
UniProt CH076_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q53HC1 UniProtKB/Swiss-Prot