FAM83A (family with sequence similarity 83 member A) - Rat Genome Database

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Gene: FAM83A (family with sequence similarity 83 member A) Homo sapiens
Analyze
Symbol: FAM83A
Name: family with sequence similarity 83 member A
RGD ID: 1602845
HGNC Page HGNC
Description: Exhibits identical protein binding activity; phosphatidylinositol 3-kinase regulatory subunit binding activity; and protein kinase binding activity. Involved in cell population proliferation and epidermal growth factor receptor signaling pathway. Predicted to localize to cytoplasm; INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; aflatoxin B1.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: BJ-TSA-9; family with sequence similarity 83, member A; hypothetical protein LOC84985; MGC14128; tumor antigen BJ-TSA-9; tumor-specific gene expressed in prostate protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
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 Ensembl8123,178,960 - 123,210,079 (+)EnsemblGRCh38hg38GRCh38
GRCh388123,179,047 - 123,210,079 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378124,191,287 - 124,222,319 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368124,263,933 - 124,291,499 (+)NCBINCBI36hg18NCBI36
Celera8120,383,791 - 120,411,357 (+)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8119,520,504 - 119,547,938 (+)NCBIHuRef
CHM1_18124,231,575 - 124,262,607 (+)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

Biological Process

Cellular Component
cytoplasm  (IEA)

Molecular Function

References

Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:16344560   PMID:16354590   PMID:17192395   PMID:17207965   PMID:18514066   PMID:21873635   PMID:22886303   PMID:24578125   PMID:24736947   PMID:25184681  
PMID:25416956   PMID:26496610   PMID:26673895   PMID:28463969   PMID:29789297   PMID:30659636   PMID:31175804   PMID:31444970   PMID:31527715   PMID:31586073   PMID:31594212   PMID:31696213  
PMID:32218702   PMID:32282228   PMID:32296183   PMID:32430734   PMID:32572919   PMID:32814053  


Genomics

Comparative Map Data
FAM83A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8123,178,960 - 123,210,079 (+)EnsemblGRCh38hg38GRCh38
GRCh388123,179,047 - 123,210,079 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378124,191,287 - 124,222,319 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368124,263,933 - 124,291,499 (+)NCBINCBI36hg18NCBI36
Celera8120,383,791 - 120,411,357 (+)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8119,520,504 - 119,547,938 (+)NCBIHuRef
CHM1_18124,231,575 - 124,262,607 (+)NCBICHM1_1
Fam83a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391557,847,983 - 57,874,102 (+)NCBIGRCm39mm39
GRCm39 Ensembl1557,848,815 - 57,874,405 (+)Ensembl
GRCm381557,984,587 - 58,010,706 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1557,985,419 - 58,011,009 (+)EnsemblGRCm38mm10GRCm38
MGSCv371557,817,458 - 57,842,261 (+)NCBIGRCm37mm9NCBIm37
MGSCv361557,815,993 - 57,825,685 (+)NCBImm8
Celera1559,506,624 - 59,530,729 (+)NCBICelera
Cytogenetic Map15D1NCBI
Fam83a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2789,522,826 - 89,547,284 (+)NCBI
Rnor_6.0 Ensembl797,855,636 - 97,881,955 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0797,855,773 - 97,880,227 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0798,462,331 - 98,486,785 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4794,692,898 - 94,717,221 (+)NCBIRGSC3.4rn4RGSC3.4
Celera786,295,417 - 86,319,863 (+)NCBICelera
Cytogenetic Map7q33NCBI
Fam83a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555402,070,396 - 2,089,665 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555402,070,396 - 2,095,341 (+)NCBIChiLan1.0ChiLan1.0
FAM83A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18122,633,373 - 122,659,864 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8122,633,373 - 122,661,709 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08119,877,517 - 119,905,848 (+)NCBIMhudiblu_PPA_v0panPan3
FAM83A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11321,566,083 - 21,590,291 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1321,566,059 - 21,589,976 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1321,531,225 - 21,555,182 (+)NCBI
ROS_Cfam_1.01321,902,312 - 21,929,536 (+)NCBI
UMICH_Zoey_3.11321,630,684 - 21,658,201 (+)NCBI
UNSW_CanFamBas_1.01321,736,217 - 21,760,846 (+)NCBI
UU_Cfam_GSD_1.01321,979,058 - 22,004,032 (+)NCBI
Fam83a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530316,693,578 - 16,712,309 (-)NCBI
SpeTri2.0NW_00493647024,119,688 - 24,138,413 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAM83A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl416,169,706 - 16,184,941 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1416,169,697 - 16,186,015 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2416,913,828 - 16,929,188 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FAM83A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18117,758,303 - 117,786,891 (+)NCBI
ChlSab1.1 Ensembl8117,759,343 - 117,784,691 (+)Ensembl

Position Markers
SHGC-149155  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,198,416 - 124,198,552UniSTSGRCh37
Build 368124,267,597 - 124,267,733RGDNCBI36
Celera8120,387,455 - 120,387,591RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,524,168 - 119,524,304UniSTS
TNG Radiation Hybrid Map859990.0UniSTS
D8S1160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,198,375 - 124,198,583UniSTSGRCh37
Build 368124,267,556 - 124,267,764RGDNCBI36
Celera8120,387,414 - 120,387,622RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,524,127 - 119,524,335UniSTS
RH65348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,222,044 - 124,222,207UniSTSGRCh37
Build 368124,291,225 - 124,291,388RGDNCBI36
Celera8120,411,083 - 120,411,246RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,547,664 - 119,547,827UniSTS
GeneMap99-GB4 RH Map8478.86UniSTS
NCBI RH Map81459.3UniSTS
BJ-TSA-9_4449  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,220,513 - 124,221,296UniSTSGRCh37
Build 368124,289,694 - 124,290,477RGDNCBI36
Celera8120,409,552 - 120,410,335RGD
HuRef8119,546,133 - 119,546,916UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
D8S2282  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4p16.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3610
Count of miRNA genes:956
Interacting mature miRNAs:1167
Transcripts:ENST00000276699, ENST00000318462, ENST00000518448, ENST00000520541, ENST00000521468, ENST00000522648, ENST00000523412, ENST00000523819, ENST00000536633, ENST00000546351
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
High
Medium 16 10 11 28 22 5 224 7 30 228 132 33 38
Low 228 207 305 69 268 36 1033 95 22 25 491 379 36 49 599
Below cutoff 1845 2222 1260 400 1057 299 2347 1668 2998 146 644 1029 102 1 1034 1692 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001288587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_207006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA838226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF497803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI677966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ927762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX101053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA454025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA764899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ280322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ280323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000276699   ⟹   ENSP00000276699
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,182,681 - 123,210,074 (+)Ensembl
RefSeq Acc Id: ENST00000518448   ⟹   ENSP00000428876
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,179,047 - 123,209,762 (+)Ensembl
RefSeq Acc Id: ENST00000520541
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,179,098 - 123,182,583 (+)Ensembl
RefSeq Acc Id: ENST00000521468
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,183,158 - 123,199,994 (+)Ensembl
RefSeq Acc Id: ENST00000522648   ⟹   ENSP00000427979
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,182,681 - 123,210,078 (+)Ensembl
RefSeq Acc Id: ENST00000523412
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,179,114 - 123,180,719 (+)Ensembl
RefSeq Acc Id: ENST00000523819
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,178,960 - 123,180,615 (+)Ensembl
RefSeq Acc Id: ENST00000536633   ⟹   ENSP00000445218
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,179,047 - 123,210,079 (+)Ensembl
RefSeq Acc Id: NM_001288587   ⟹   NP_001275516
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,182,665 - 123,210,078 (+)NCBI
HuRef8119,517,039 - 119,547,939 (+)NCBI
CHM1_18124,234,880 - 124,262,607 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321630   ⟹   NP_001308559
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,182,665 - 123,202,659 (+)NCBI
CHM1_18124,234,880 - 124,255,184 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032899   ⟹   NP_116288
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,180,132 - 123,210,079 (+)NCBI
GRCh378124,194,752 - 124,222,318 (+)RGD
Build 368124,263,933 - 124,290,402 (+)NCBI Archive
Celera8120,383,791 - 120,411,357 (+)RGD
HuRef8119,517,039 - 119,547,939 (+)NCBI
CHM1_18124,232,660 - 124,262,607 (+)NCBI
Sequence:
RefSeq Acc Id: NM_207006   ⟹   NP_996889
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,179,047 - 123,210,078 (+)NCBI
GRCh378124,194,752 - 124,222,318 (+)RGD
GRCh378124,194,752 - 124,222,318 (+)NCBI
Build 368124,263,933 - 124,291,499 (+)NCBI Archive
Celera8120,383,791 - 120,411,357 (+)RGD
HuRef8119,517,039 - 119,547,939 (+)NCBI
CHM1_18124,231,575 - 124,262,607 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005251087   ⟹   XP_005251144
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,182,573 - 123,210,078 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517338   ⟹   XP_011515640
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,182,573 - 123,200,603 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_996889   ⟸   NM_207006
- Peptide Label: isoform b
- UniProtKB: Q86UY5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_116288   ⟸   NM_032899
- Peptide Label: isoform a
- UniProtKB: Q86UY5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005251144   ⟸   XM_005251087
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001275516   ⟸   NM_001288587
- Peptide Label: isoform c
- UniProtKB: Q86UY5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515640   ⟸   XM_011517338
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001308559   ⟸   NM_001321630
- Peptide Label: isoform d
- Sequence:
RefSeq Acc Id: ENSP00000428876   ⟸   ENST00000518448
RefSeq Acc Id: ENSP00000445218   ⟸   ENST00000536633
RefSeq Acc Id: ENSP00000427979   ⟸   ENST00000522648
RefSeq Acc Id: ENSP00000276699   ⟸   ENST00000276699

Promoters
RGD ID:7214105
Promoter ID:EPDNEW_H12799
Type:initiation region
Name:FAM83A_2
Description:family with sequence similarity 83 member A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12800  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,178,986 - 123,179,046EPDNEW
RGD ID:7214107
Promoter ID:EPDNEW_H12800
Type:initiation region
Name:FAM83A_1
Description:family with sequence similarity 83 member A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12799  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,182,704 - 123,182,764EPDNEW
RGD ID:6806748
Promoter ID:HG_KWN:62017
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC003YPV.1,   UC003YPW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368124,260,146 - 124,260,646 (+)MPROMDB
RGD ID:6806747
Promoter ID:HG_KWN:62019
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:UC003YPX.1,   UC003YPY.2,   UC003YPZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368124,263,596 - 124,264,102 (+)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
NM_032899.5(FAM83A):c.172G>A (p.Gly58Ser) single nucleotide variant Malignant melanoma [RCV000068137] Chr8:123183028 [GRCh38]
Chr8:124195268 [GRCh37]
Chr8:124264449 [NCBI36]
Chr8:8q24.13
not provided
NM_032899.5(FAM83A):c.702G>A (p.Arg234=) single nucleotide variant Malignant melanoma [RCV000068138] Chr8:123194077 [GRCh38]
Chr8:124206317 [GRCh37]
Chr8:124275498 [NCBI36]
Chr8:8q24.13
not provided
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 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 8q24.13-24.22(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 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.13-24.21(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 8q24.12-24.13(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:28210 AgrOrtholog
COSMIC FAM83A COSMIC
Ensembl Genes ENSG00000147689 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000276699 UniProtKB/Swiss-Prot
  ENSP00000427979 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428876 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000445218 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000276699 UniProtKB/Swiss-Prot
  ENST00000518448 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000522648 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000536633 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000147689 GTEx
HGNC ID HGNC:28210 ENTREZGENE
Human Proteome Map FAM83A Human Proteome Map
InterPro FAM83_N UniProtKB/Swiss-Prot
KEGG Report hsa:84985 UniProtKB/Swiss-Prot
NCBI Gene 84985 ENTREZGENE
Pfam FAM83 UniProtKB/Swiss-Prot
PharmGKB PA142671851 PharmGKB
UniProt FA83A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q71HL2 UniProtKB/Swiss-Prot
  Q8N7I1 UniProtKB/Swiss-Prot
  Q96I47 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 FAM83A  family with sequence similarity 83 member A    family with sequence similarity 83, member A  Symbol and/or name change 5135510 APPROVED