POTEA (POTE ankyrin domain family member A) - Rat Genome Database

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Gene: POTEA (POTE ankyrin domain family member A) Homo sapiens
Analyze
Symbol: POTEA
Name: POTE ankyrin domain family member A
RGD ID: 1603854
HGNC Page HGNC:33893
Description: ASSOCIATED WITH genetic disease; mucopolysaccharidosis type IIIC; INTERACTS WITH benzo[a]pyrene; valproic acid
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: A26A1; ANKRD26-like family A member 1; ANKRD26-like family A, member 1; cancer/testis antigen family 104, member 3; CT104.3; POTE ankyrin domain family, member A; POTE-8; POTE8; prostate, ovary, testis-expressed protein on chromosome 8; protein expressed in prostate, ovary, testis, and placenta 8
RGD Orthologs
Rat
Dog
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
GRCh38843,292,370 - 43,365,175 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl843,292,483 - 43,363,518 (+)EnsemblGRCh38hg38GRCh38
GRCh37843,147,585 - 43,218,328 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36843,266,742 - 43,337,485 (+)NCBINCBI36Build 36hg18NCBI36
Celera842,097,375 - 42,168,102 (+)NCBICelera
Cytogenetic Map8p11.1NCBI
HuRef841,671,733 - 41,742,486 (+)NCBIHuRef
CHM1_1843,194,766 - 43,265,510 (+)NCBICHM1_1
T2T-CHM13v2.0843,566,549 - 43,639,364 (+)NCBIT2T-CHM13v2.0
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
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12475935   PMID:15276201   PMID:16364570   PMID:29547645   PMID:29676528   PMID:29698858   PMID:30021884   PMID:33961781  


Genomics

Comparative Map Data
POTEA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38843,292,370 - 43,365,175 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl843,292,483 - 43,363,518 (+)EnsemblGRCh38hg38GRCh38
GRCh37843,147,585 - 43,218,328 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36843,266,742 - 43,337,485 (+)NCBINCBI36Build 36hg18NCBI36
Celera842,097,375 - 42,168,102 (+)NCBICelera
Cytogenetic Map8p11.1NCBI
HuRef841,671,733 - 41,742,486 (+)NCBIHuRef
CHM1_1843,194,766 - 43,265,510 (+)NCBICHM1_1
T2T-CHM13v2.0843,566,549 - 43,639,364 (+)NCBIT2T-CHM13v2.0
A630010A05Rikl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8102,727,916 - 2,889,774 (+)NCBIGRCr8
mRatBN7.2102,221,335 - 2,385,035 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl102,240,584 - 2,381,458 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0101,935,963 - 1,977,756 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Celera101,370,970 - 1,412,763 (+)NCBICelera
Cytogenetic Map10q11NCBI
LOC119869194
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
UU_Cfam_GSD_1.0216,915,694 - 17,070,797 (-)NCBIUU_Cfam_GSD_1.0
POTEA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1843,203,331 - 43,261,940 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603998,818,677 - 98,890,657 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in POTEA
5 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 copy number gain See cases [RCV000050904] Chr8:25832130..48521849 [GRCh38]
Chr8:25689646..49434409 [GRCh37]
Chr8:25745563..49596962 [NCBI36]
Chr8:8p21.2-q11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 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 8p12-q11.21(chr8:29719897-48521849)x3 copy number gain See cases [RCV000050995] Chr8:29719897..48521849 [GRCh38]
Chr8:29577413..49434409 [GRCh37]
Chr8:29633332..49596962 [NCBI36]
Chr8:8p12-q11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21		 pathogenic
GRCh38/hg38 8p11.21-11.1(chr8:42535063-43541633)x3 copy number gain See cases [RCV000053674] Chr8:42535063..43541633 [GRCh38]
Chr8:42390206..43396776 [GRCh37]
Chr8:42509363..43515933 [NCBI36]
Chr8:8p11.21-11.1		 benign
GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3 copy number gain See cases [RCV000053649] Chr8:39830633..49209461 [GRCh38]
Chr8:39688152..50122020 [GRCh37]
Chr8:39807309..50284573 [NCBI36]
Chr8:8p11.22-q11.21		 pathogenic
GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3 copy number gain See cases [RCV000053650] Chr8:39981424..43532444 [GRCh38]
Chr8:39838943..43387587 [GRCh37]
Chr8:39958100..43506744 [NCBI36]
Chr8:8p11.21-11.1		 pathogenic
GRCh38/hg38 8p11.21-q11.21(chr8:41547961-48178799)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053651]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053651]|See cases [RCV000053651] Chr8:41547961..48178799 [GRCh38]
Chr8:41405480..49091359 [GRCh37]
Chr8:41524637..49253912 [NCBI36]
Chr8:8p11.21-q11.21		 pathogenic
GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3 copy number gain See cases [RCV000053652] Chr8:41845699..47893948 [GRCh38]
Chr8:41703217..48806508 [GRCh37]
Chr8:41822374..48969061 [NCBI36]
Chr8:8p11.21-q11.21		 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
NM_001002920.1(POTEA):c.1135G>A (p.Glu379Lys) single nucleotide variant Malignant melanoma [RCV000068326] Chr8:43342241 [GRCh38]
Chr8:43197384 [GRCh37]
Chr8:43316541 [NCBI36]
Chr8:8p11.1		 not provided
NM_001002920.1(POTEA):c.1262C>T (p.Ser421Leu) single nucleotide variant Malignant melanoma [RCV000068327] Chr8:43356798 [GRCh38]
Chr8:43211941 [GRCh37]
Chr8:43331098 [NCBI36]
Chr8:8p11.1		 not provided
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p11.21-11.1(chr8:42900304-43673207)x3 copy number gain See cases [RCV000136515] Chr8:42900304..43673207 [GRCh38]
Chr8:42755447..43528350 [GRCh37]
Chr8:42874604..43647507 [NCBI36]
Chr8:8p11.21-11.1		 uncertain significance
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p11.21-11.1(chr8:43003465-43686843)x3 copy number gain See cases [RCV000138289] Chr8:43003465..43686843 [GRCh38]
Chr8:42858608..43541986 [GRCh37]
Chr8:42977765..43661143 [NCBI36]
Chr8:8p11.21-11.1		 likely pathogenic|likely benign
GRCh38/hg38 8p11.21-11.1(chr8:43003468-43686841)x3 copy number gain See cases [RCV000139402] Chr8:43003468..43686841 [GRCh38]
Chr8:42858611..43541984 [GRCh37]
Chr8:42977768..43661141 [NCBI36]
Chr8:8p11.21-11.1		 benign
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1		 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 8p11.21-11.1(chr8:43115130-43674590)x3 copy number gain See cases [RCV000141522] Chr8:43115130..43674590 [GRCh38]
Chr8:42970273..43529733 [GRCh37]
Chr8:43089430..43648890 [NCBI36]
Chr8:8p11.21-11.1		 benign
GRCh38/hg38 8p11.1(chr8:43255351-43673207)x3 copy number gain See cases [RCV000141542] Chr8:43255351..43673207 [GRCh38]
Chr8:43110494..43528350 [GRCh37]
Chr8:43229651..43647507 [NCBI36]
Chr8:8p11.1		 uncertain significance
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 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 8p11.21-11.1(chr8:43115130-43673207)x4 copy number gain See cases [RCV000142572] Chr8:43115130..43673207 [GRCh38]
Chr8:42970273..43528350 [GRCh37]
Chr8:43089430..43647507 [NCBI36]
Chr8:8p11.21-11.1		 likely benign
GRCh38/hg38 8p11.21-11.1(chr8:43115130-43673207)x3 copy number gain See cases [RCV000142573] Chr8:43115130..43673207 [GRCh38]
Chr8:42970273..43528350 [GRCh37]
Chr8:43089430..43647507 [NCBI36]
Chr8:8p11.21-11.1		 uncertain significance
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 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
NC_000008.11:g.43365358G>T single nucleotide variant Lung cancer [RCV000107386] Chr8:43365358 [GRCh38]
Chr8:43220501 [GRCh37]
Chr8:8p11.1		 uncertain significance
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 8p11.21-11.1(chr8:42952655-43388233)x3 copy number gain See cases [RCV000447180] Chr8:42952655..43388233 [GRCh37]
Chr8:8p11.21-11.1		 benign|likely benign
GRCh37/hg19 8p11.21-11.1(chr8:42952655-43211923)x3 copy number gain See cases [RCV000448981] Chr8:42952655..43211923 [GRCh37]
Chr8:8p11.21-11.1		 benign
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1		 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 8p11.21-11.1(chr8:42783678-43824035)x3 copy number gain See cases [RCV000510330] Chr8:42783678..43824035 [GRCh37]
Chr8:8p11.21-11.1		 likely benign
GRCh37/hg19 8p11.21-11.1(chr8:42745823-43824035)x3 copy number gain See cases [RCV000511868] Chr8:42745823..43824035 [GRCh37]
Chr8:8p11.21-11.1		 uncertain significance
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1		 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 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 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 8p11.21-11.1(chr8:42853714-43791691)x3 copy number gain not provided [RCV000747521] Chr8:42853714..43791691 [GRCh37]
Chr8:8p11.21-11.1		 benign
GRCh37/hg19 8p11.21-11.1(chr8:42858299-43740939)x3 copy number gain not provided [RCV000747522] Chr8:42858299..43740939 [GRCh37]
Chr8:8p11.21-11.1		 benign
GRCh37/hg19 8p11.21-11.1(chr8:42880897-43791691)x3 copy number gain not provided [RCV000747523] Chr8:42880897..43791691 [GRCh37]
Chr8:8p11.21-11.1		 likely benign
GRCh37/hg19 8p11.21-11.1(chr8:42973440-43791691)x3 copy number gain not provided [RCV000747524] Chr8:42973440..43791691 [GRCh37]
Chr8:8p11.21-11.1		 benign
GRCh37/hg19 8p11.21-11.1(chr8:42978463-43791691)x3 copy number gain not provided [RCV000747525] Chr8:42978463..43791691 [GRCh37]
Chr8:8p11.21-11.1		 benign
GRCh37/hg19 8p11.21-11.1(chr8:43054553-43820906)x3 copy number gain not provided [RCV000747526] Chr8:43054553..43820906 [GRCh37]
Chr8:8p11.21-11.1		 benign
NM_001005365.2(POTEA):c.1453G>C (p.Glu485Gln) single nucleotide variant not provided [RCV000879424] Chr8:43356851 [GRCh38]
Chr8:43211994 [GRCh37]
Chr8:8p11.1		 benign
GRCh37/hg19 8p12-11.1(chr8:36094421-43822214)x3 copy number gain not provided [RCV000848822] Chr8:36094421..43822214 [GRCh37]
Chr8:8p12-11.1		 uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NC_000008.11:g.(?_43083118)_(43304769_?)dup duplication Mucopolysaccharidosis, MPS-III-C [RCV001031406] Chr8:42938261..43159912 [GRCh37]
Chr8:8p11.21-11.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p11.21-q11.21(chr8:42162574-48757095) copy number gain not specified [RCV002053760] Chr8:42162574..48757095 [GRCh37]
Chr8:8p11.21-q11.21		 uncertain significance
NC_000008.10:g.(?_43002091)_(43159912_?)dup duplication Mucopolysaccharidosis, MPS-III-C [RCV003113712] Chr8:43002091..43159912 [GRCh37]
Chr8:8p11.21-11.1		 uncertain significance
NM_001005365.2(POTEA):c.23A>G (p.Lys8Arg) single nucleotide variant Inborn genetic diseases [RCV002748733] Chr8:43292507 [GRCh38]
Chr8:43147650 [GRCh37]
Chr8:8p11.1		 uncertain significance
GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3 copy number gain See cases [RCV003329560] Chr8:36763176..50929707 [GRCh37]
Chr8:8p11.23-q11.21		 pathogenic
GRCh37/hg19 8p11.1(chr8:43112832-43175586)x1 copy number loss not provided [RCV003483026] Chr8:43112832..43175586 [GRCh37]
Chr8:8p11.1		 uncertain significance
Single allele duplication not provided [RCV003448693] Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 copy number gain not provided [RCV003484725] Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1		 pathogenic
GRCh37/hg19 8p11.23-11.1(chr8:37988714-43780050)x3 copy number gain not specified [RCV003986759] Chr8:37988714..43780050 [GRCh37]
Chr8:8p11.23-11.1		 uncertain significance
GRCh37/hg19 8p11.23-11.1(chr8:37972810-43837099)x3 copy number gain not specified [RCV003986761] Chr8:37972810..43837099 [GRCh37]
Chr8:8p11.23-11.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3 copy number gain not specified [RCV003986767] Chr8:20136266..43786723 [GRCh37]
Chr8:8p21.3-11.1		 pathogenic
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p11.21-11.1(chr8:43103284-43533090)x3 copy number gain See cases [RCV000140805] Chr8:43103284..43533090 [GRCh38]
Chr8:42958427..43388233 [GRCh37]
Chr8:43077584..43507390 [NCBI36]
Chr8:8p11.21-11.1		 benign|likely benign|conflicting data from submitters
GRCh38/hg38 8p11.21-11.1(chr8:39960531-43673207)x3 copy number gain See cases [RCV000142663] Chr8:39960531..43673207 [GRCh38]
Chr8:39818050..43528350 [GRCh37]
Chr8:39937207..43647507 [NCBI36]
Chr8:8p11.21-11.1		 pathogenic
GRCh37/hg19 8p11.21-11.1(chr8:40690198-43388233)x3 copy number gain See cases [RCV000446823] Chr8:40690198..43388233 [GRCh37]
Chr8:8p11.21-11.1		 pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1		 uncertain significance
GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 copy number gain not provided [RCV000846266] Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:226
Count of miRNA genes:209
Interacting mature miRNAs:216
Transcripts:ENST00000519951, ENST00000522175
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.

Markers in Region
D8S372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37843,213,331 - 43,213,690UniSTSGRCh37
Build 36843,332,488 - 43,332,847RGDNCBI36
Celera842,163,099 - 42,163,464RGD
Cytogenetic Map8p11.1UniSTS
HuRef841,737,481 - 41,737,848UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium 10
Low 2 1 1 8 1 1 1 351 1
Below cutoff 136 148 111 22 120 15 214 123 199 8 87 90 7 53 141

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000519951   ⟹   ENSP00000492193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl843,292,483 - 43,363,518 (+)Ensembl
RefSeq Acc Id: ENST00000522175   ⟹   ENSP00000492265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl843,292,483 - 43,363,319 (+)Ensembl
RefSeq Acc Id: NM_001002920   ⟹   NP_001002920
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38843,292,442 - 43,363,185 (+)NCBI
GRCh37843,147,585 - 43,218,328 (+)RGD
Build 36843,266,742 - 43,337,485 (+)NCBI Archive
Celera842,097,375 - 42,168,102 (+)RGD
HuRef841,671,733 - 41,742,486 (+)RGD
CHM1_1843,194,766 - 43,265,510 (+)NCBI
T2T-CHM13v2.0843,566,621 - 43,637,374 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001005365   ⟹   NP_001005365
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38843,292,442 - 43,363,185 (+)NCBI
GRCh37843,147,585 - 43,218,328 (+)RGD
Build 36843,266,742 - 43,337,485 (+)NCBI Archive
Celera842,097,375 - 42,168,102 (+)RGD
HuRef841,671,733 - 41,742,486 (+)RGD
CHM1_1843,194,766 - 43,265,510 (+)NCBI
T2T-CHM13v2.0843,566,621 - 43,637,374 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447146   ⟹   XP_024302914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38843,292,370 - 43,365,175 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047421756   ⟹   XP_047277712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38843,292,370 - 43,318,537 (+)NCBI
RefSeq Acc Id: XM_054360425   ⟹   XP_054216400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0843,566,549 - 43,592,701 (+)NCBI
RefSeq Acc Id: XM_054360426   ⟹   XP_054216401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0843,566,549 - 43,639,364 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001002920   ⟸   NM_001002920
- Peptide Label: isoform 1
- UniProtKB: Q6S8J7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001005365   ⟸   NM_001005365
- Peptide Label: isoform 2
- UniProtKB: A6ND71 (UniProtKB/Swiss-Prot),   A6ND17 (UniProtKB/Swiss-Prot),   Q6S8J6 (UniProtKB/Swiss-Prot),   Q6S8J7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024302914   ⟸   XM_024447146
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000492193   ⟸   ENST00000519951
RefSeq Acc Id: ENSP00000492265   ⟸   ENST00000522175
RefSeq Acc Id: XP_047277712   ⟸   XM_047421756
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216401   ⟸   XM_054360426
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054216400   ⟸   XM_054360425
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6S8J7-F1-model_v2 AlphaFold Q6S8J7 1-498 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33893 AgrOrtholog
COSMIC POTEA COSMIC
Ensembl Genes ENSG00000188877 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000519951 ENTREZGENE
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot
GTEx ENSG00000188877 GTEx
HGNC ID HGNC:33893 ENTREZGENE
Human Proteome Map POTEA Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot
KEGG Report hsa:340441 UniProtKB/Swiss-Prot
NCBI Gene 340441 ENTREZGENE
OMIM 608915 OMIM
PANTHER ANKYRIN REPEAT DOMAIN 36-RELATED UniProtKB/Swiss-Prot
  POTE ANKYRIN DOMAIN FAMILY MEMBER A UniProtKB/Swiss-Prot
Pfam Ank_2 UniProtKB/Swiss-Prot
PharmGKB PA164724701 PharmGKB
PRINTS ANKYRIN UniProtKB/Swiss-Prot
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot
  ANK_REPEAT UniProtKB/Swiss-Prot
SMART ANK UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot
UniProt A6ND17 ENTREZGENE
  A6ND71 ENTREZGENE
  POTEA_HUMAN UniProtKB/Swiss-Prot
  Q6S8J6 ENTREZGENE
  Q6S8J7 ENTREZGENE
UniProt Secondary A6ND17 UniProtKB/Swiss-Prot
  A6ND71 UniProtKB/Swiss-Prot
  Q6S8J6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 POTEA  POTE ankyrin domain family member A    POTE ankyrin domain family, member A  Symbol and/or name change 5135510 APPROVED