ANKS3 (ankyrin repeat and sterile alpha motif domain containing 3) - Rat Genome Database

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Gene: ANKS3 (ankyrin repeat and sterile alpha motif domain containing 3) Homo sapiens
Analyze
Symbol: ANKS3
Name: ankyrin repeat and sterile alpha motif domain containing 3
RGD ID: 1604545
HGNC Page HGNC:29422
Description: Predicted to be located in cytoplasm. Predicted to be active in cilium.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ankyrin repeat and SAM domain-containing protein 3; FLJ32345; FLJ32767; KIAA1977
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
GRCh38164,696,511 - 4,734,271 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl164,696,510 - 4,734,378 (-)EnsemblGRCh38hg38GRCh38
GRCh37164,746,512 - 4,784,272 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36164,686,514 - 4,724,164 (-)NCBINCBI36Build 36hg18NCBI36
Celera164,955,291 - 4,992,944 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef164,713,030 - 4,750,906 (-)NCBIHuRef
CHM1_1164,747,292 - 4,785,140 (-)NCBICHM1_1
T2T-CHM13v2.0164,725,963 - 4,763,728 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cell projection  (IEA)
cilium  (IBA,IEA)
cytoplasm  (IEA,ISS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11853319   PMID:12477932   PMID:14702039   PMID:16713569   PMID:16964243   PMID:17081983   PMID:21653829   PMID:21873635   PMID:22658674   PMID:24998259   PMID:26188091   PMID:26673895  
PMID:26972000   PMID:27173435   PMID:27417436   PMID:28514442   PMID:29117863   PMID:30021884   PMID:31753913   PMID:32513696   PMID:32707033   PMID:33961781   PMID:35156780  


Genomics

Comparative Map Data
ANKS3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38164,696,511 - 4,734,271 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl164,696,510 - 4,734,378 (-)EnsemblGRCh38hg38GRCh38
GRCh37164,746,512 - 4,784,272 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36164,686,514 - 4,724,164 (-)NCBINCBI36Build 36hg18NCBI36
Celera164,955,291 - 4,992,944 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef164,713,030 - 4,750,906 (-)NCBIHuRef
CHM1_1164,747,292 - 4,785,140 (-)NCBICHM1_1
T2T-CHM13v2.0164,725,963 - 4,763,728 (-)NCBIT2T-CHM13v2.0
Anks3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39164,759,290 - 4,783,362 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl164,759,300 - 4,782,069 (-)EnsemblGRCm39 Ensembl
GRCm38164,941,415 - 4,965,537 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl164,941,436 - 4,964,205 (-)EnsemblGRCm38mm10GRCm38
MGSCv37164,941,420 - 4,964,330 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36164,856,671 - 4,879,505 (-)NCBIMGSCv36mm8
Celera165,572,755 - 5,595,570 (-)NCBICelera
Cytogenetic Map16A1NCBI
cM Map162.48NCBI
Anks3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81011,121,504 - 11,142,261 (+)NCBIGRCr8
mRatBN7.21010,614,953 - 10,635,815 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1010,615,047 - 10,635,806 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1015,323,559 - 15,344,216 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01014,812,376 - 14,833,033 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01010,481,506 - 10,502,164 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01010,808,780 - 10,829,507 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1010,808,823 - 10,831,535 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0109,575,611 - 9,596,437 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41010,732,109 - 10,752,778 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11010,732,108 - 10,752,776 (+)NCBI
Celera109,579,341 - 9,600,010 (+)NCBICelera
Cytogenetic Map10q12NCBI
Anks3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544212,752,008 - 12,775,081 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544212,752,468 - 12,775,081 (+)NCBIChiLan1.0ChiLan1.0
ANKS3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2185,225,222 - 5,263,889 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1169,015,351 - 9,053,705 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0163,621,185 - 3,659,570 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1164,788,093 - 4,822,178 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl164,788,093 - 4,820,760 (-)Ensemblpanpan1.1panPan2
ANKS3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1636,678,916 - 36,711,096 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl636,669,590 - 36,710,807 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0636,882,187 - 36,914,161 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl636,882,347 - 36,914,158 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1636,676,333 - 36,708,012 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0636,569,127 - 36,600,861 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0636,971,269 - 37,003,540 (+)NCBIUU_Cfam_GSD_1.0
Anks3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344106,852,793 - 106,878,146 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365304,695,401 - 4,722,924 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365304,698,234 - 4,723,131 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ANKS3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl337,650,256 - 37,689,500 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1337,664,182 - 37,689,502 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2338,725,118 - 38,748,113 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ANKS3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.154,378,318 - 4,413,266 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl54,375,517 - 4,413,199 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606826,248,878 - 26,286,986 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Anks3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248242,478,608 - 2,505,257 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248242,478,608 - 2,507,287 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ANKS3
59 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.3(chr16:4490463-4815780)x1 copy number loss See cases [RCV000051115] Chr16:4490463..4815780 [GRCh38]
Chr16:4540464..4865781 [GRCh37]
Chr16:4480465..4805782 [NCBI36]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1 copy number loss See cases [RCV000053270] Chr16:2850734..7110697 [GRCh38]
Chr16:2900735..7160698 [GRCh37]
Chr16:2840736..7100699 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:4536131-10852466)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|See cases [RCV000053274] Chr16:4536131..10852466 [GRCh38]
Chr16:4586132..10946323 [GRCh37]
Chr16:4526133..10853824 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
NM_133450.4(ANKS3):c.439C>A (p.His147Asn) single nucleotide variant not provided [RCV000416352] Chr16:4726711 [GRCh38]
Chr16:4776712 [GRCh37]
Chr16:16p13.3		 pathogenic|uncertain significance
GRCh37/hg19 16p13.3(chr16:4740929-4950995)x1 copy number loss See cases [RCV000446335] Chr16:4740929..4950995 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:4541805-5813911)x3 copy number gain See cases [RCV000448804] Chr16:4541805..5813911 [GRCh37]
Chr16:16p13.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1 copy number loss See cases [RCV000511703] Chr16:3146027..6362229 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_133450.4(ANKS3):c.798C>G (p.His266Gln) single nucleotide variant Inborn genetic diseases [RCV003289694] Chr16:4705165 [GRCh38]
Chr16:4755166 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
NM_133450.4(ANKS3):c.1960dup (p.Arg654fs) duplication Short stature [RCV000736202] Chr16:4697038..4697039 [GRCh38]
Chr16:4747039..4747040 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:4698427-4748033)x0 copy number loss not provided [RCV000751555] Chr16:4698427..4748033 [GRCh37]
Chr16:16p13.3		 benign
NM_133450.4(ANKS3):c.502T>G (p.Cys168Gly) single nucleotide variant ANKS3-related condition [RCV003918424]|not provided [RCV000970017] Chr16:4724821 [GRCh38]
Chr16:4774822 [GRCh37]
Chr16:16p13.3		 likely benign
NM_133450.4(ANKS3):c.984G>A (p.Glu328=) single nucleotide variant not provided [RCV000880694] Chr16:4702127 [GRCh38]
Chr16:4752128 [GRCh37]
Chr16:16p13.3		 benign
NC_000016.10:g.(?_3727698)_(4802591_?)del deletion Rubinstein-Taybi syndrome [RCV000813975] Chr16:3727698..4802591 [GRCh38]
Chr16:3777699..4852592 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_133450.4(ANKS3):c.74G>A (p.Gly25Glu) single nucleotide variant not provided [RCV000967404] Chr16:4730076 [GRCh38]
Chr16:4780077 [GRCh37]
Chr16:16p13.3		 benign
NM_133450.4(ANKS3):c.1736C>G (p.Ala579Gly) single nucleotide variant Inborn genetic diseases [RCV003271523] Chr16:4698051 [GRCh38]
Chr16:4748052 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.1350C>G (p.Asp450Glu) single nucleotide variant Inborn genetic diseases [RCV003248069] Chr16:4699111 [GRCh38]
Chr16:4749112 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.880C>T (p.Pro294Ser) single nucleotide variant Inborn genetic diseases [RCV003273836] Chr16:4702231 [GRCh38]
Chr16:4752232 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3 copy number gain not provided [RCV000846351] Chr16:3731117..5325699 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_133450.4(ANKS3):c.1049G>A (p.Ser350Asn) single nucleotide variant Inborn genetic diseases [RCV003291539] Chr16:4701504 [GRCh38]
Chr16:4751505 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.1755G>C (p.Val585=) single nucleotide variant not provided [RCV000955504] Chr16:4698032 [GRCh38]
Chr16:4748033 [GRCh37]
Chr16:16p13.3		 benign
NM_133450.4(ANKS3):c.1131T>C (p.His377=) single nucleotide variant not provided [RCV000955505] Chr16:4701123 [GRCh38]
Chr16:4751124 [GRCh37]
Chr16:16p13.3		 benign
NM_133450.4(ANKS3):c.42G>C (p.Leu14=) single nucleotide variant not provided [RCV000891307] Chr16:4730108 [GRCh38]
Chr16:4780109 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_133450.4(ANKS3):c.586G>A (p.Asp196Asn) single nucleotide variant Inborn genetic diseases [RCV003253443] Chr16:4714174 [GRCh38]
Chr16:4764175 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.(?_3727698)_(4802591_?)dup duplication Amelocerebrohypohidrotic syndrome [RCV001031942] Chr16:3777699..4852592 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_3777699)_(4852592_?)dup duplication Kohlschutter's syndrome [RCV001305610] Chr16:3777699..4852592 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:4541805-5813911) copy number gain not specified [RCV002052503] Chr16:4541805..5813911 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.352G>A (p.Ala118Thr) single nucleotide variant Non-immune hydrops fetalis [RCV001844349] Chr16:4726996 [GRCh38]
Chr16:4776997 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(4852572_?)dup duplication Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] Chr16:256302..4852572 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_3293141)_(5971108_?)dup duplication Rubinstein-Taybi syndrome [RCV003113465] Chr16:3293141..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_133450.4(ANKS3):c.1861T>G (p.Ser621Ala) single nucleotide variant Inborn genetic diseases [RCV003285780] Chr16:4697366 [GRCh38]
Chr16:4747367 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_133450.4(ANKS3):c.1115A>G (p.Asn372Ser) single nucleotide variant Inborn genetic diseases [RCV002992504] Chr16:4701438 [GRCh38]
Chr16:4751439 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.1645G>A (p.Ala549Thr) single nucleotide variant Inborn genetic diseases [RCV002969897] Chr16:4698506 [GRCh38]
Chr16:4748507 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.1487T>C (p.Leu496Pro) single nucleotide variant Inborn genetic diseases [RCV002773611] Chr16:4698864 [GRCh38]
Chr16:4748865 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.791G>A (p.Ser264Asn) single nucleotide variant Inborn genetic diseases [RCV002841589] Chr16:4705172 [GRCh38]
Chr16:4755173 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.911G>C (p.Gly304Ala) single nucleotide variant Inborn genetic diseases [RCV002945664] Chr16:4702200 [GRCh38]
Chr16:4752201 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.857G>A (p.Arg286Gln) single nucleotide variant Inborn genetic diseases [RCV002879880] Chr16:4705106 [GRCh38]
Chr16:4755107 [GRCh37]
Chr16:16p13.3		 likely benign
NM_133450.4(ANKS3):c.163G>T (p.Val55Leu) single nucleotide variant Inborn genetic diseases [RCV002762364] Chr16:4729987 [GRCh38]
Chr16:4779988 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.58A>G (p.Met20Val) single nucleotide variant Inborn genetic diseases [RCV002981440] Chr16:4730092 [GRCh38]
Chr16:4780093 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.1801C>T (p.Pro601Ser) single nucleotide variant Inborn genetic diseases [RCV002757620] Chr16:4697986 [GRCh38]
Chr16:4747987 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.643A>T (p.Met215Leu) single nucleotide variant Inborn genetic diseases [RCV002784381] Chr16:4714117 [GRCh38]
Chr16:4764118 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.1843A>G (p.Met615Val) single nucleotide variant Inborn genetic diseases [RCV002798617] Chr16:4697384 [GRCh38]
Chr16:4747385 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.1244C>A (p.Ser415Tyr) single nucleotide variant Inborn genetic diseases [RCV002892824] Chr16:4701010 [GRCh38]
Chr16:4751011 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.1886G>A (p.Arg629His) single nucleotide variant Inborn genetic diseases [RCV002764149] Chr16:4697341 [GRCh38]
Chr16:4747342 [GRCh37]
Chr16:16p13.3		 likely benign
NM_133450.4(ANKS3):c.1436C>T (p.Thr479Met) single nucleotide variant Inborn genetic diseases [RCV002873499] Chr16:4698915 [GRCh38]
Chr16:4748916 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.1552C>T (p.Arg518Cys) single nucleotide variant Inborn genetic diseases [RCV002764100] Chr16:4698599 [GRCh38]
Chr16:4748600 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.935G>A (p.Gly312Asp) single nucleotide variant Inborn genetic diseases [RCV002763767] Chr16:4702176 [GRCh38]
Chr16:4752177 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.1534G>A (p.Ala512Thr) single nucleotide variant Inborn genetic diseases [RCV002813576] Chr16:4698817 [GRCh38]
Chr16:4748818 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.1880G>A (p.Arg627His) single nucleotide variant Inborn genetic diseases [RCV002748330] Chr16:4697347 [GRCh38]
Chr16:4747348 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.1208G>A (p.Arg403His) single nucleotide variant Inborn genetic diseases [RCV003011007] Chr16:4701046 [GRCh38]
Chr16:4751047 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.1292C>T (p.Ala431Val) single nucleotide variant Inborn genetic diseases [RCV003008891] Chr16:4699169 [GRCh38]
Chr16:4749170 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.140A>G (p.Gln47Arg) single nucleotide variant Inborn genetic diseases [RCV002854727] Chr16:4730010 [GRCh38]
Chr16:4780011 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.331A>G (p.Ser111Gly) single nucleotide variant Inborn genetic diseases [RCV002678176] Chr16:4727017 [GRCh38]
Chr16:4777018 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.265C>A (p.Leu89Ile) single nucleotide variant Inborn genetic diseases [RCV002679043] Chr16:4727083 [GRCh38]
Chr16:4777084 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.1790G>A (p.Gly597Asp) single nucleotide variant Inborn genetic diseases [RCV003180872] Chr16:4697997 [GRCh38]
Chr16:4747998 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.908G>A (p.Ser303Asn) single nucleotide variant Inborn genetic diseases [RCV003202580] Chr16:4702203 [GRCh38]
Chr16:4752204 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.1040C>T (p.Pro347Leu) single nucleotide variant Inborn genetic diseases [RCV003189436] Chr16:4701513 [GRCh38]
Chr16:4751514 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.1769C>T (p.Pro590Leu) single nucleotide variant Inborn genetic diseases [RCV003213069] Chr16:4698018 [GRCh38]
Chr16:4748019 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.1834C>A (p.Leu612Met) single nucleotide variant Inborn genetic diseases [RCV003220818] Chr16:4697393 [GRCh38]
Chr16:4747394 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.683T>C (p.Leu228Pro) single nucleotide variant Inborn genetic diseases [RCV003184184] Chr16:4714077 [GRCh38]
Chr16:4764078 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.919C>A (p.Pro307Thr) single nucleotide variant Inborn genetic diseases [RCV003201930] Chr16:4702192 [GRCh38]
Chr16:4752193 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.1321A>G (p.Lys441Glu) single nucleotide variant Inborn genetic diseases [RCV003194452] Chr16:4699140 [GRCh38]
Chr16:4749141 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.88G>T (p.Gly30Trp) single nucleotide variant Inborn genetic diseases [RCV003308594] Chr16:4730062 [GRCh38]
Chr16:4780063 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.1798G>A (p.Val600Ile) single nucleotide variant Inborn genetic diseases [RCV003342627] Chr16:4697989 [GRCh38]
Chr16:4747990 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.718G>A (p.Glu240Lys) single nucleotide variant Inborn genetic diseases [RCV003381214] Chr16:4705245 [GRCh38]
Chr16:4755246 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.1280C>T (p.Pro427Leu) single nucleotide variant Inborn genetic diseases [RCV003366650] Chr16:4700974 [GRCh38]
Chr16:4750975 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.1150C>T (p.Arg384Cys) single nucleotide variant Inborn genetic diseases [RCV003370653] Chr16:4701104 [GRCh38]
Chr16:4751105 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.650T>C (p.Ile217Thr) single nucleotide variant Inborn genetic diseases [RCV003373221] Chr16:4714110 [GRCh38]
Chr16:4764111 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.1141A>T (p.Ser381Cys) single nucleotide variant Inborn genetic diseases [RCV003362395] Chr16:4701113 [GRCh38]
Chr16:4751114 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.183T>A (p.Asp61Glu) single nucleotide variant Inborn genetic diseases [RCV003374049] Chr16:4727165 [GRCh38]
Chr16:4777166 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.1010-6C>T single nucleotide variant not provided [RCV003456917] Chr16:4701549 [GRCh38]
Chr16:4751550 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:4462897-5172225)x3 copy number gain not provided [RCV003485087] Chr16:4462897..5172225 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_133450.4(ANKS3):c.1230C>T (p.Gly410=) single nucleotide variant not provided [RCV003411256] Chr16:4701024 [GRCh38]
Chr16:4751025 [GRCh37]
Chr16:16p13.3		 likely benign
NM_133450.4(ANKS3):c.1821C>T (p.Gly607=) single nucleotide variant not provided [RCV003426568] Chr16:4697406 [GRCh38]
Chr16:4747407 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1 copy number loss not provided [RCV003885471] Chr16:2990033..4837646 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_133450.4(ANKS3):c.1745C>T (p.Ser582Leu) single nucleotide variant ANKS3-related condition [RCV003894725] Chr16:4698042 [GRCh38]
Chr16:4748043 [GRCh37]
Chr16:16p13.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9982
Count of miRNA genes:1261
Interacting mature miRNAs:1654
Transcripts:ENST00000304283, ENST00000446014, ENST00000450067, ENST00000585773, ENST00000586159, ENST00000586166, ENST00000586605, ENST00000586632, ENST00000587005, ENST00000588398, ENST00000588513, ENST00000589035, ENST00000589065, ENST00000590147, ENST00000590193, ENST00000590689, ENST00000590730, ENST00000590803, ENST00000591185, ENST00000591281, ENST00000591653, ENST00000592068, ENST00000592077, ENST00000592190, ENST00000592421, ENST00000592698, ENST00000592711, ENST00000592840, ENST00000593120
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.

Markers in Region
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
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Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


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 1573 1337 1045 106 297 24 2434 828 2504 151 1215 1094 82 660 1676
Low 866 1625 678 515 1625 438 1922 1369 1230 268 245 519 93 1 544 1112 6 2
Below cutoff 29 3 3 29 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001242929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_133450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_040252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB075857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC023830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI560632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM545219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX333650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR004376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000304283   ⟹   ENSP00000304586
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,696,511 - 4,734,271 (-)Ensembl
RefSeq Acc Id: ENST00000446014   ⟹   ENSP00000406796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,696,512 - 4,730,246 (-)Ensembl
RefSeq Acc Id: ENST00000450067   ⟹   ENSP00000388270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,696,510 - 4,734,377 (-)Ensembl
RefSeq Acc Id: ENST00000585773   ⟹   ENSP00000465294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,696,857 - 4,734,249 (-)Ensembl
RefSeq Acc Id: ENST00000586159   ⟹   ENSP00000465454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,705,121 - 4,734,378 (-)Ensembl
RefSeq Acc Id: ENST00000586166   ⟹   ENSP00000465373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,701,118 - 4,734,264 (-)Ensembl
RefSeq Acc Id: ENST00000586605   ⟹   ENSP00000468234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,700,970 - 4,734,330 (-)Ensembl
RefSeq Acc Id: ENST00000586632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,705,210 - 4,725,122 (-)Ensembl
RefSeq Acc Id: ENST00000587005   ⟹   ENSP00000465361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,724,792 - 4,734,192 (-)Ensembl
RefSeq Acc Id: ENST00000588398
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,698,143 - 4,699,195 (-)Ensembl
RefSeq Acc Id: ENST00000588513   ⟹   ENSP00000467439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,697,353 - 4,705,230 (-)Ensembl
RefSeq Acc Id: ENST00000589035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,696,512 - 4,700,303 (-)Ensembl
RefSeq Acc Id: ENST00000589065   ⟹   ENSP00000466362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,705,243 - 4,734,247 (-)Ensembl
RefSeq Acc Id: ENST00000590147   ⟹   ENSP00000468380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,724,825 - 4,734,160 (-)Ensembl
RefSeq Acc Id: ENST00000590193   ⟹   ENSP00000467591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,696,512 - 4,734,199 (-)Ensembl
RefSeq Acc Id: ENST00000590689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,729,358 - 4,734,195 (-)Ensembl
RefSeq Acc Id: ENST00000590730   ⟹   ENSP00000466162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,699,754 - 4,734,254 (-)Ensembl
RefSeq Acc Id: ENST00000590803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,696,512 - 4,727,169 (-)Ensembl
RefSeq Acc Id: ENST00000591185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,696,512 - 4,700,170 (-)Ensembl
RefSeq Acc Id: ENST00000591281   ⟹   ENSP00000467474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,717,439 - 4,734,204 (-)Ensembl
RefSeq Acc Id: ENST00000591653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,696,512 - 4,728,078 (-)Ensembl
RefSeq Acc Id: ENST00000592068   ⟹   ENSP00000465306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,701,051 - 4,734,192 (-)Ensembl
RefSeq Acc Id: ENST00000592077   ⟹   ENSP00000465203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,696,512 - 4,734,219 (-)Ensembl
RefSeq Acc Id: ENST00000592190   ⟹   ENSP00000465566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,726,659 - 4,734,228 (-)Ensembl
RefSeq Acc Id: ENST00000592421   ⟹   ENSP00000466228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,700,979 - 4,734,345 (-)Ensembl
RefSeq Acc Id: ENST00000592698   ⟹   ENSP00000467783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,702,167 - 4,734,263 (-)Ensembl
RefSeq Acc Id: ENST00000592711   ⟹   ENSP00000468464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,714,156 - 4,734,127 (-)Ensembl
RefSeq Acc Id: ENST00000592840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,699,505 - 4,701,620 (-)Ensembl
RefSeq Acc Id: ENST00000593120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,714,016 - 4,734,192 (-)Ensembl
RefSeq Acc Id: ENST00000614075   ⟹   ENSP00000480350
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,696,510 - 4,730,167 (-)Ensembl
RefSeq Acc Id: NM_001242929   ⟹   NP_001229858
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,696,511 - 4,734,271 (-)NCBI
GRCh37164,746,500 - 4,784,378 (-)NCBI
HuRef164,713,030 - 4,750,906 (-)ENTREZGENE
CHM1_1164,747,292 - 4,785,140 (-)NCBI
T2T-CHM13v2.0164,725,963 - 4,763,728 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001308089   ⟹   NP_001295018
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,696,511 - 4,734,271 (-)NCBI
CHM1_1164,747,293 - 4,785,140 (-)NCBI
T2T-CHM13v2.0164,725,963 - 4,763,728 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001324129   ⟹   NP_001311058
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,696,511 - 4,734,271 (-)NCBI
CHM1_1164,747,292 - 4,785,140 (-)NCBI
T2T-CHM13v2.0164,725,963 - 4,763,728 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001324130   ⟹   NP_001311059
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,696,511 - 4,734,271 (-)NCBI
CHM1_1164,747,292 - 4,784,926 (-)NCBI
T2T-CHM13v2.0164,725,963 - 4,763,728 (-)NCBI
Sequence:
RefSeq Acc Id: NM_133450   ⟹   NP_597707
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,696,511 - 4,734,271 (-)NCBI
GRCh37164,746,500 - 4,784,378 (-)NCBI
Build 36164,686,514 - 4,724,164 (-)NCBI Archive
Celera164,955,291 - 4,992,944 (-)RGD
HuRef164,713,030 - 4,750,906 (-)ENTREZGENE
CHM1_1164,747,292 - 4,784,926 (-)NCBI
T2T-CHM13v2.0164,725,963 - 4,763,728 (-)NCBI
Sequence:
RefSeq Acc Id: NR_040252
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,696,511 - 4,734,271 (-)NCBI
GRCh37164,746,500 - 4,784,378 (-)NCBI
HuRef164,713,030 - 4,750,906 (-)ENTREZGENE
CHM1_1164,747,292 - 4,785,140 (-)NCBI
T2T-CHM13v2.0164,725,963 - 4,763,728 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522372   ⟹   XP_011520674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,696,511 - 4,734,160 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522373   ⟹   XP_011520675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,696,511 - 4,734,271 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022935   ⟹   XP_016878424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,696,511 - 4,734,159 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450153   ⟹   XP_024305921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,696,511 - 4,727,065 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047433617   ⟹   XP_047289573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,696,511 - 4,717,488 (-)NCBI
RefSeq Acc Id: XM_047433618   ⟹   XP_047289574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,696,511 - 4,730,064 (-)NCBI
RefSeq Acc Id: XM_054379599   ⟹   XP_054235574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,725,963 - 4,763,617 (-)NCBI
RefSeq Acc Id: XM_054379600   ⟹   XP_054235575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,725,963 - 4,763,728 (-)NCBI
RefSeq Acc Id: XM_054379601   ⟹   XP_054235576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,725,963 - 4,763,616 (-)NCBI
RefSeq Acc Id: XM_054379602   ⟹   XP_054235577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,725,963 - 4,756,522 (-)NCBI
RefSeq Acc Id: XM_054379603   ⟹   XP_054235578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,725,963 - 4,746,940 (-)NCBI
RefSeq Acc Id: XM_054379604   ⟹   XP_054235579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,725,963 - 4,759,521 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001229858 (Get FASTA)   NCBI Sequence Viewer  
  NP_001295018 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311058 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311059 (Get FASTA)   NCBI Sequence Viewer  
  NP_597707 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520674 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520675 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878424 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305921 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289573 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289574 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235574 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235575 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235576 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235577 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235578 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235579 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH50387 (Get FASTA)   NCBI Sequence Viewer  
  BAB85563 (Get FASTA)   NCBI Sequence Viewer  
  BAC85597 (Get FASTA)   NCBI Sequence Viewer  
  BAC85629 (Get FASTA)   NCBI Sequence Viewer  
  BAG51903 (Get FASTA)   NCBI Sequence Viewer  
  BAG63156 (Get FASTA)   NCBI Sequence Viewer  
  EAW85269 (Get FASTA)   NCBI Sequence Viewer  
  EAW85270 (Get FASTA)   NCBI Sequence Viewer  
  EAW85271 (Get FASTA)   NCBI Sequence Viewer  
  EAW85272 (Get FASTA)   NCBI Sequence Viewer  
  EAW85273 (Get FASTA)   NCBI Sequence Viewer  
  EAW85274 (Get FASTA)   NCBI Sequence Viewer  
  EAW85275 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000304586
  ENSP00000304586.4
  ENSP00000388270
  ENSP00000388270.3
  ENSP00000406796
  ENSP00000406796.2
  ENSP00000465203.1
  ENSP00000465294.1
  ENSP00000465306.1
  ENSP00000465361.1
  ENSP00000465373.1
  ENSP00000465454.1
  ENSP00000465566.1
  ENSP00000466162.1
  ENSP00000466228.1
  ENSP00000466362.1
  ENSP00000467439.1
  ENSP00000467474.1
  ENSP00000467591.1
  ENSP00000467783.1
  ENSP00000468234.1
  ENSP00000468380.1
  ENSP00000468464.1
  ENSP00000480350
  ENSP00000480350.1
GenBank Protein Q6ZW76 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_597707   ⟸   NM_133450
- Peptide Label: isoform 1
- UniProtKB: D3DUE2 (UniProtKB/Swiss-Prot),   B4DWU4 (UniProtKB/Swiss-Prot),   Q8TF25 (UniProtKB/Swiss-Prot),   Q6ZW76 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229858   ⟸   NM_001242929
- Peptide Label: isoform 2
- UniProtKB: F6WF08 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520675   ⟸   XM_011522373
- Peptide Label: isoform X2
- UniProtKB: D3DUE2 (UniProtKB/Swiss-Prot),   B4DWU4 (UniProtKB/Swiss-Prot),   Q8TF25 (UniProtKB/Swiss-Prot),   Q6ZW76 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011520674   ⟸   XM_011522372
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001311058   ⟸   NM_001324129
- Peptide Label: isoform 4
- UniProtKB: Q86W77 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001311059   ⟸   NM_001324130
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001295018   ⟸   NM_001308089
- Peptide Label: isoform 3
- UniProtKB: D3DUE4 (UniProtKB/TrEMBL),   Q86W77 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016878424   ⟸   XM_017022935
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024305921   ⟸   XM_024450153
- Peptide Label: isoform X4
- UniProtKB: Q86W77 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000388270   ⟸   ENST00000450067
RefSeq Acc Id: ENSP00000465294   ⟸   ENST00000585773
RefSeq Acc Id: ENSP00000465454   ⟸   ENST00000586159
RefSeq Acc Id: ENSP00000465373   ⟸   ENST00000586166
RefSeq Acc Id: ENSP00000468234   ⟸   ENST00000586605
RefSeq Acc Id: ENSP00000465361   ⟸   ENST00000587005
RefSeq Acc Id: ENSP00000467439   ⟸   ENST00000588513
RefSeq Acc Id: ENSP00000466362   ⟸   ENST00000589065
RefSeq Acc Id: ENSP00000480350   ⟸   ENST00000614075
RefSeq Acc Id: ENSP00000406796   ⟸   ENST00000446014
RefSeq Acc Id: ENSP00000468380   ⟸   ENST00000590147
RefSeq Acc Id: ENSP00000467591   ⟸   ENST00000590193
RefSeq Acc Id: ENSP00000466162   ⟸   ENST00000590730
RefSeq Acc Id: ENSP00000467474   ⟸   ENST00000591281
RefSeq Acc Id: ENSP00000468464   ⟸   ENST00000592711
RefSeq Acc Id: ENSP00000467783   ⟸   ENST00000592698
RefSeq Acc Id: ENSP00000465566   ⟸   ENST00000592190
RefSeq Acc Id: ENSP00000465306   ⟸   ENST00000592068
RefSeq Acc Id: ENSP00000465203   ⟸   ENST00000592077
RefSeq Acc Id: ENSP00000466228   ⟸   ENST00000592421
RefSeq Acc Id: ENSP00000304586   ⟸   ENST00000304283
RefSeq Acc Id: XP_047289574   ⟸   XM_047433618
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047289573   ⟸   XM_047433617
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054235575   ⟸   XM_054379600
- Peptide Label: isoform X2
- UniProtKB: Q6ZW76 (UniProtKB/Swiss-Prot),   D3DUE2 (UniProtKB/Swiss-Prot),   B4DWU4 (UniProtKB/Swiss-Prot),   Q8TF25 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054235574   ⟸   XM_054379599
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054235576   ⟸   XM_054379601
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054235579   ⟸   XM_054379604
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054235577   ⟸   XM_054379602
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054235578   ⟸   XM_054379603
- Peptide Label: isoform X5
Protein Domains
SAM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6ZW76-F1-model_v2 AlphaFold Q6ZW76 1-656 view protein structure

Promoters
RGD ID:6793238
Promoter ID:HG_KWN:22939
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:UC002CXH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36164,688,989 - 4,689,489 (-)MPROMDB
RGD ID:6792752
Promoter ID:HG_KWN:22941
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_133450,   OTTHUMT00000251644,   UC002CXK.1,   UC002CXL.1,   UC002CXM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36164,724,181 - 4,725,057 (+)MPROMDB
RGD ID:7231227
Promoter ID:EPDNEW_H21359
Type:initiation region
Name:ANKS3_1
Description:ankyrin repeat and sterile alpha motif domain containing 3
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
GRCh38164,734,271 - 4,734,331EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29422 AgrOrtholog
COSMIC ANKS3 COSMIC
Ensembl Genes ENSG00000168096 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000304283 ENTREZGENE
  ENST00000304283.9 UniProtKB/Swiss-Prot
  ENST00000446014 ENTREZGENE
  ENST00000446014.6 UniProtKB/TrEMBL
  ENST00000450067 ENTREZGENE
  ENST00000450067.6 UniProtKB/TrEMBL
  ENST00000585773.5 UniProtKB/Swiss-Prot
  ENST00000586159.5 UniProtKB/TrEMBL
  ENST00000586166.5 UniProtKB/TrEMBL
  ENST00000586605.5 UniProtKB/TrEMBL
  ENST00000587005.5 UniProtKB/TrEMBL
  ENST00000588513.1 UniProtKB/TrEMBL
  ENST00000589065.5 UniProtKB/TrEMBL
  ENST00000590147.5 UniProtKB/TrEMBL
  ENST00000590193 ENTREZGENE
  ENST00000590193.5 UniProtKB/TrEMBL
  ENST00000590730.5 UniProtKB/TrEMBL
  ENST00000591281.5 UniProtKB/TrEMBL
  ENST00000592068.5 UniProtKB/TrEMBL
  ENST00000592077.5 UniProtKB/TrEMBL
  ENST00000592190.1 UniProtKB/TrEMBL
  ENST00000592421.5 UniProtKB/TrEMBL
  ENST00000592698.5 UniProtKB/TrEMBL
  ENST00000592711.5 UniProtKB/TrEMBL
  ENST00000614075 ENTREZGENE
  ENST00000614075.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.150.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000168096 GTEx
HGNC ID HGNC:29422 ENTREZGENE
Human Proteome Map ANKS3 Human Proteome Map
InterPro ANKS3_SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM/pointed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:124401 UniProtKB/Swiss-Prot
NCBI Gene 124401 ENTREZGENE
OMIM 617310 OMIM
PANTHER ANKYRIN REPEAT AND SAM DOMAIN-CONTAINING PROTEIN 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SI:CH211-189E2.2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank UniProtKB/TrEMBL
  Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ank_4 UniProtKB/Swiss-Prot
  SAM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA143485303 PharmGKB
PRINTS ANKYRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ANKS3_HUMAN UniProtKB/Swiss-Prot
  B4DWU4 ENTREZGENE
  D3DUE2 ENTREZGENE
  D3DUE4 ENTREZGENE, UniProtKB/TrEMBL
  F6WF08 ENTREZGENE, UniProtKB/TrEMBL
  K7EJS9_HUMAN UniProtKB/TrEMBL
  K7EJX3_HUMAN UniProtKB/TrEMBL
  K7EJY2_HUMAN UniProtKB/TrEMBL
  K7EKD2_HUMAN UniProtKB/TrEMBL
  K7ELP3_HUMAN UniProtKB/TrEMBL
  K7ELU8_HUMAN UniProtKB/TrEMBL
  K7EM53_HUMAN UniProtKB/TrEMBL
  K7EPL7_HUMAN UniProtKB/TrEMBL
  K7EPP4_HUMAN UniProtKB/TrEMBL
  K7EPY5_HUMAN UniProtKB/TrEMBL
  K7EQE0_HUMAN UniProtKB/TrEMBL
  K7ERF3_HUMAN UniProtKB/TrEMBL
  K7ERR7_HUMAN UniProtKB/TrEMBL
  K7ERY3_HUMAN UniProtKB/TrEMBL
  Q6ZW76 ENTREZGENE
  Q86W77 ENTREZGENE, UniProtKB/TrEMBL
  Q8TF25 ENTREZGENE
UniProt Secondary B4DWU4 UniProtKB/Swiss-Prot
  D3DUE2 UniProtKB/Swiss-Prot
  Q8TF25 UniProtKB/Swiss-Prot