ATOSA (atos homolog A) - Rat Genome Database

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Gene: ATOSA (atos homolog A) Homo sapiens
Analyze
Symbol: ATOSA
Name: atos homolog A
RGD ID: 1606264
HGNC Page HGNC:25609
Description: Predicted to be located in nucleus; INTERACTS WITH 17beta-estradiol; 17beta-hydroxy-5alpha-androstan-3-one; 2-hydroxypropanoic acid.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: atos homolog protein A; FAM214A; family with sequence similarity 214 member A; family with sequence similarity 214, member A; FLJ10980; hypothetical protein LOC56204; KIAA1370; MGC126494; MGC126495; uncharacterized protein KIAA1370
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381552,581,321 - 52,709,815 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1552,581,317 - 52,709,817 (-)EnsemblGRCh38hg38GRCh38
GRCh371552,873,518 - 53,002,012 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361550,660,810 - 50,758,112 (-)NCBINCBI36Build 36hg18NCBI36
Celera1529,768,567 - 29,865,870 (-)NCBICelera
Cytogenetic Map15q21.2-q21.3NCBI
HuRef1529,704,130 - 29,801,395 (-)NCBIHuRef
CHM1_11552,991,469 - 53,088,726 (-)NCBICHM1_1
T2T-CHM13v2.01550,389,635 - 50,518,064 (-)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
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-hydroxypropanoic acid  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP)
alpha-pinene  (EXP)
amitrole  (ISO)
azoxystrobin  (ISO)
benzo[a]pyrene  (EXP)
benzo[b]fluoranthene  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
chloroacetaldehyde  (EXP)
chlorpyrifos  (ISO)
cidofovir anhydrous  (EXP)
cisplatin  (EXP)
clodronic acid  (EXP)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP,ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP,ISO)
dioxygen  (EXP,ISO)
diuron  (ISO)
Enterolactone  (EXP)
ethanol  (ISO)
fenofibrate  (ISO)
fenthion  (ISO)
fenvalerate  (ISO)
ferric oxide  (ISO)
flutamide  (ISO)
glafenine  (ISO)
glyphosate  (ISO)
ifosfamide  (EXP)
imidacloprid  (ISO)
indometacin  (EXP)
leflunomide  (ISO)
maneb  (ISO)
metformin  (ISO)
methapyrilene  (ISO)
methimazole  (ISO)
methylparaben  (EXP)
nefazodone  (ISO)
nimesulide  (ISO)
ozone  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sulfadimethoxine  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thiabendazole  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
urethane  (EXP)
vinclozolin  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
nucleus  (IEA)

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:10718198   PMID:12477932   PMID:14702039   PMID:16344560   PMID:20936779   PMID:22990118   PMID:25416956   PMID:26760575   PMID:32513696   PMID:35319107   PMID:38113892  


Genomics

Comparative Map Data
ATOSA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381552,581,321 - 52,709,815 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1552,581,317 - 52,709,817 (-)EnsemblGRCh38hg38GRCh38
GRCh371552,873,518 - 53,002,012 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361550,660,810 - 50,758,112 (-)NCBINCBI36Build 36hg18NCBI36
Celera1529,768,567 - 29,865,870 (-)NCBICelera
Cytogenetic Map15q21.2-q21.3NCBI
HuRef1529,704,130 - 29,801,395 (-)NCBIHuRef
CHM1_11552,991,469 - 53,088,726 (-)NCBICHM1_1
T2T-CHM13v2.01550,389,635 - 50,518,064 (-)NCBIT2T-CHM13v2.0
Atosa
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39974,860,162 - 74,939,750 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl974,860,151 - 74,939,746 (+)EnsemblGRCm39 Ensembl
GRCm38974,952,867 - 75,032,468 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl974,952,884 - 75,032,468 (+)EnsemblGRCm38mm10GRCm38
MGSCv37974,800,860 - 74,880,275 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36974,762,715 - 74,818,689 (+)NCBIMGSCv36mm8
Celera972,106,697 - 72,186,470 (+)NCBICelera
Cytogenetic Map9DNCBI
cM Map942.12NCBI
Atosa
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8884,575,360 - 84,653,103 (+)NCBIGRCr8
mRatBN7.2875,694,828 - 75,772,565 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl875,695,022 - 75,772,549 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx881,201,562 - 81,279,236 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0879,466,933 - 79,544,789 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0877,300,873 - 77,378,562 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0881,863,619 - 81,941,548 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl881,863,619 - 81,941,536 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0881,482,305 - 81,559,189 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4879,740,706 - 79,817,592 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1879,760,381 - 79,836,064 (+)NCBI
Celera875,487,544 - 75,565,059 (+)NCBICelera
Cytogenetic Map8q24NCBI
Atosa
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554092,289,589 - 2,344,832 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554092,261,169 - 2,345,489 (+)NCBIChiLan1.0ChiLan1.0
ATOSA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21641,818,198 - 41,918,858 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11545,998,168 - 46,096,600 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01531,522,297 - 31,620,560 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11549,848,026 - 49,944,922 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1549,848,026 - 49,944,808 (-)Ensemblpanpan1.1panPan2
ATOSA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13018,221,930 - 18,308,390 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3018,221,987 - 18,306,807 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3018,149,591 - 18,235,765 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03018,369,846 - 18,456,319 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3018,369,430 - 18,455,143 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13018,288,189 - 18,374,343 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03018,406,181 - 18,492,256 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03018,511,702 - 18,597,900 (-)NCBIUU_Cfam_GSD_1.0
Atosa
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864096,514,534 - 96,606,476 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647114,362,187 - 14,453,193 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647114,362,597 - 14,454,529 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATOSA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1119,020,990 - 119,124,464 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11118,993,862 - 119,124,472 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21132,089,283 - 132,192,733 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ATOSA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12630,687,636 - 30,813,611 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2630,715,925 - 30,814,462 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048110,416,714 - 110,514,382 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Atosa
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247317,994,944 - 8,071,333 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247317,981,017 - 8,076,166 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ATOSA
18 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q21.1-21.3(chr15:46042302-54195828)x1 copy number loss See cases [RCV000051619] Chr15:46042302..54195828 [GRCh38]
Chr15:46334500..54488025 [GRCh37]
Chr15:44121792..52275317 [NCBI36]
Chr15:15q21.1-21.3
pathogenic
GRCh38/hg38 15q21.1-21.3(chr15:48695331-53923002)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051620]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051620]|See cases [RCV000051620] Chr15:48695331..53923002 [GRCh38]
Chr15:48987528..54215199 [GRCh37]
Chr15:46774820..52002491 [NCBI36]
Chr15:15q21.1-21.3
pathogenic
GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1 copy number loss See cases [RCV000051621] Chr15:50864913..59646577 [GRCh38]
Chr15:51157110..59938776 [GRCh37]
Chr15:48944402..57726068 [NCBI36]
Chr15:15q21.2-22.2
pathogenic
GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1 copy number loss See cases [RCV000136661] Chr15:51276690..57088386 [GRCh38]
Chr15:51568887..57380584 [GRCh37]
Chr15:49356179..55167876 [NCBI36]
Chr15:15q21.2-21.3
pathogenic
GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1 copy number loss not provided [RCV001270659] Chr15:48744917..53851050 [GRCh37]
Chr15:15q21.1-21.3
pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_001385016.1(ATOSA):c.967A>G (p.Ile323Val) single nucleotide variant not specified [RCV004295591] Chr15:52609947 [GRCh38]
Chr15:52902144 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.1691G>A (p.Cys564Tyr) single nucleotide variant not specified [RCV004303164] Chr15:52609223 [GRCh38]
Chr15:52901420 [GRCh37]
Chr15:15q21.3
uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1 copy number loss not provided [RCV000683686] Chr15:43759773..53252240 [GRCh37]
Chr15:15q15.3-21.3
pathogenic
GRCh37/hg19 15q21.2-21.3(chr15:50727285-57603305)x3 copy number gain not provided [RCV000683691] Chr15:50727285..57603305 [GRCh37]
Chr15:15q21.2-21.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3 copy number gain not provided [RCV000845891] Chr15:48000433..60747551 [GRCh37]
Chr15:15q21.1-22.2
pathogenic
GRCh37/hg19 15q21.2-21.3(chr15:50083229-53439931)x1 copy number loss not provided [RCV000848123] Chr15:50083229..53439931 [GRCh37]
Chr15:15q21.2-21.3
uncertain significance
GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3 copy number gain not provided [RCV000849275] Chr15:49031132..56740397 [GRCh37]
Chr15:15q21.1-21.3
pathogenic
NM_001385016.1(ATOSA):c.2291G>A (p.Arg764Lys) single nucleotide variant not specified [RCV004286498] Chr15:52608623 [GRCh38]
Chr15:52900820 [GRCh37]
Chr15:15q21.3
likely benign
NC_000015.9:g.(?_50999997)_(54025330_?)del deletion Spastic paraplegia [RCV003105621]|not provided [RCV003105622] Chr15:50999997..54025330 [GRCh37]
Chr15:15q21.2-21.3
pathogenic|no classifications from unflagged records
NC_000015.9:g.(?_50731271)_(54025330_?)dup duplication not provided [RCV003105626] Chr15:50731271..54025330 [GRCh37]
Chr15:15q21.2-21.3
uncertain significance
NM_001385016.1(ATOSA):c.1798G>A (p.Glu600Lys) single nucleotide variant not specified [RCV004288734] Chr15:52609116 [GRCh38]
Chr15:52901313 [GRCh37]
Chr15:15q21.3
uncertain significance
GRCh37/hg19 15q21.2-21.3(chr15:51792729-55134365)x1 copy number loss not provided [RCV001259215] Chr15:51792729..55134365 [GRCh37]
Chr15:15q21.2-21.3
likely pathogenic
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1
uncertain significance
GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908) copy number loss not specified [RCV002052472] Chr15:47635238..56509908 [GRCh37]
Chr15:15q21.1-21.3
pathogenic
GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3 copy number gain not provided [RCV002472512] Chr15:48589845..63543438 [GRCh37]
Chr15:15q21.1-22.2
pathogenic
NM_001385016.1(ATOSA):c.1939A>G (p.Ile647Val) single nucleotide variant not specified [RCV004294226] Chr15:52608975 [GRCh38]
Chr15:52901172 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.642G>T (p.Gln214His) single nucleotide variant not specified [RCV004327378] Chr15:52610272 [GRCh38]
Chr15:52902469 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.1050G>C (p.Gln350His) single nucleotide variant not specified [RCV004252107] Chr15:52609864 [GRCh38]
Chr15:52902061 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.1241A>C (p.Glu414Ala) single nucleotide variant not specified [RCV004264871] Chr15:52609673 [GRCh38]
Chr15:52901870 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.865C>A (p.Pro289Thr) single nucleotide variant not specified [RCV004266580] Chr15:52610049 [GRCh38]
Chr15:52902246 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.1947A>C (p.Lys649Asn) single nucleotide variant not specified [RCV004355179] Chr15:52608967 [GRCh38]
Chr15:52901164 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.401G>A (p.Arg134Gln) single nucleotide variant not specified [RCV004334740] Chr15:52611578 [GRCh38]
Chr15:52903775 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.2293A>G (p.Ser765Gly) single nucleotide variant not specified [RCV004341479] Chr15:52608621 [GRCh38]
Chr15:52900818 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.1358G>A (p.Arg453Gln) single nucleotide variant not specified [RCV004363386] Chr15:52609556 [GRCh38]
Chr15:52901753 [GRCh37]
Chr15:15q21.3
uncertain significance
GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1 copy number loss not provided [RCV003483230] Chr15:49390592..56800964 [GRCh37]
Chr15:15q21.1-21.3
pathogenic
GRCh37/hg19 15q21.2-21.3(chr15:52774308-52998571)x3 copy number gain not provided [RCV003485068] Chr15:52774308..52998571 [GRCh37]
Chr15:15q21.2-21.3
uncertain significance
NM_001385016.1(ATOSA):c.1078A>G (p.Asn360Asp) single nucleotide variant not specified [RCV004425522] Chr15:52609836 [GRCh38]
Chr15:52902033 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.1109G>A (p.Arg370Gln) single nucleotide variant not specified [RCV004425524] Chr15:52609805 [GRCh38]
Chr15:52902002 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.1123G>C (p.Ala375Pro) single nucleotide variant not specified [RCV004425525] Chr15:52609791 [GRCh38]
Chr15:52901988 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.1302T>G (p.Phe434Leu) single nucleotide variant not specified [RCV004425526] Chr15:52609612 [GRCh38]
Chr15:52901809 [GRCh37]
Chr15:15q21.3
likely benign
NM_001385016.1(ATOSA):c.1337G>A (p.Arg446Gln) single nucleotide variant not specified [RCV004425527] Chr15:52609577 [GRCh38]
Chr15:52901774 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.1471C>G (p.Gln491Glu) single nucleotide variant not specified [RCV004425528] Chr15:52609443 [GRCh38]
Chr15:52901640 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.1534G>T (p.Asp512Tyr) single nucleotide variant not specified [RCV004425531] Chr15:52609380 [GRCh38]
Chr15:52901577 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.1630C>T (p.His544Tyr) single nucleotide variant not specified [RCV004425533] Chr15:52609284 [GRCh38]
Chr15:52901481 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.1858A>C (p.Asn620His) single nucleotide variant not specified [RCV004425534] Chr15:52609056 [GRCh38]
Chr15:52901253 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.1887G>T (p.Lys629Asn) single nucleotide variant not specified [RCV004425535] Chr15:52609027 [GRCh38]
Chr15:52901224 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.1965G>C (p.Lys655Asn) single nucleotide variant not specified [RCV004425537] Chr15:52608949 [GRCh38]
Chr15:52901146 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.2056A>C (p.Lys686Gln) single nucleotide variant not specified [RCV004425538] Chr15:52608858 [GRCh38]
Chr15:52901055 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.205C>T (p.Arg69Cys) single nucleotide variant not specified [RCV004425539] Chr15:52611774 [GRCh38]
Chr15:52903971 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.218G>A (p.Arg73Gln) single nucleotide variant not specified [RCV004425543] Chr15:52611761 [GRCh38]
Chr15:52903958 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.2429C>T (p.Pro810Leu) single nucleotide variant not specified [RCV004425544] Chr15:52605164 [GRCh38]
Chr15:52897361 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.307G>A (p.Asp103Asn) single nucleotide variant not specified [RCV004425551] Chr15:52611672 [GRCh38]
Chr15:52903869 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.422T>C (p.Ile141Thr) single nucleotide variant not specified [RCV004425554] Chr15:52611238 [GRCh38]
Chr15:52903435 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.536G>A (p.Ser179Asn) single nucleotide variant not specified [RCV004425555] Chr15:52610378 [GRCh38]
Chr15:52902575 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.796C>T (p.Arg266Cys) single nucleotide variant not specified [RCV004425559] Chr15:52610118 [GRCh38]
Chr15:52902315 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.895A>G (p.Lys299Glu) single nucleotide variant not specified [RCV004425560] Chr15:52610019 [GRCh38]
Chr15:52902216 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.1510C>T (p.Pro504Ser) single nucleotide variant not specified [RCV004425530] Chr15:52609404 [GRCh38]
Chr15:52901601 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.2167A>C (p.Ile723Leu) single nucleotide variant not specified [RCV004425541] Chr15:52608747 [GRCh38]
Chr15:52900944 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.2857C>T (p.Pro953Ser) single nucleotide variant not specified [RCV004425549] Chr15:52587171 [GRCh38]
Chr15:52879368 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_001385016.1(ATOSA):c.2894A>G (p.Asn965Ser) single nucleotide variant not specified [RCV004425550] Chr15:52584928 [GRCh38]
Chr15:52877125 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_001385016.1(ATOSA):c.580A>G (p.Ile194Val) single nucleotide variant not specified [RCV004425556] Chr15:52610334 [GRCh38]
Chr15:52902531 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.1040C>G (p.Ser347Cys) single nucleotide variant not specified [RCV004425520] Chr15:52609874 [GRCh38]
Chr15:52902071 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.1045C>T (p.Arg349Cys) single nucleotide variant not specified [RCV004425521] Chr15:52609869 [GRCh38]
Chr15:52902066 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.1492C>A (p.Pro498Thr) single nucleotide variant not specified [RCV004425529] Chr15:52609422 [GRCh38]
Chr15:52901619 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.2096A>G (p.Tyr699Cys) single nucleotide variant not specified [RCV004425540] Chr15:52608818 [GRCh38]
Chr15:52901015 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.2605A>G (p.Ser869Gly) single nucleotide variant not specified [RCV004425548] Chr15:52600171 [GRCh38]
Chr15:52892368 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.384C>G (p.Ile128Met) single nucleotide variant not specified [RCV004425552] Chr15:52611595 [GRCh38]
Chr15:52903792 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.408T>A (p.Asn136Lys) single nucleotide variant not specified [RCV004425553] Chr15:52611252 [GRCh38]
Chr15:52903449 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.605A>C (p.Asn202Thr) single nucleotide variant not specified [RCV004425557] Chr15:52610309 [GRCh38]
Chr15:52902506 [GRCh37]
Chr15:15q21.3
uncertain significance
NC_000015.10:g.(51338597_?)_(?_57376504)inv inversion Aromatase excess syndrome [RCV000019402] Chr15:51338597..57376504 [GRCh38]
Chr15:15q21.2-21.3
pathogenic
NM_001385016.1(ATOSA):c.1108C>T (p.Arg370Trp) single nucleotide variant not specified [RCV004425523] Chr15:52609806 [GRCh38]
Chr15:52902003 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.1555A>G (p.Lys519Glu) single nucleotide variant not specified [RCV004425532] Chr15:52609359 [GRCh38]
Chr15:52901556 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.193C>G (p.Leu65Val) single nucleotide variant not specified [RCV004425536] Chr15:52613681 [GRCh38]
Chr15:52905878 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.2183A>G (p.Asn728Ser) single nucleotide variant not specified [RCV004425542] Chr15:52608731 [GRCh38]
Chr15:52900928 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.2437G>A (p.Gly813Arg) single nucleotide variant not specified [RCV004425545] Chr15:52605156 [GRCh38]
Chr15:52897353 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.700G>A (p.Gly234Ser) single nucleotide variant not specified [RCV004425558] Chr15:52610214 [GRCh38]
Chr15:52902411 [GRCh37]
Chr15:15q21.3
uncertain significance
NM_001385016.1(ATOSA):c.1907G>A (p.Gly636Glu) single nucleotide variant not specified [RCV004352635] Chr15:52609007 [GRCh38]
Chr15:52901204 [GRCh37]
Chr15:15q21.3
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2205
Count of miRNA genes:862
Interacting mature miRNAs:1017
Transcripts:ENST00000261844, ENST00000399202, ENST00000534964, ENST00000546305, ENST00000561490, ENST00000561543, ENST00000562135, ENST00000562351, ENST00000566768, ENST00000566948, ENST00000568637, ENST00000568668, ENST00000568863, ENST00000568871, ENST00000570204
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
RH77759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371552,948,387 - 52,948,546UniSTSGRCh37
Build 361550,735,679 - 50,735,838RGDNCBI36
Celera1529,843,424 - 29,843,583RGD
Cytogenetic Map15q21.2-q21.3UniSTS
HuRef1529,778,958 - 29,779,117UniSTS
GeneMap99-GB4 RH Map15177.64UniSTS
SHGC-64266  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371552,948,490 - 52,948,642UniSTSGRCh37
Build 361550,735,782 - 50,735,934RGDNCBI36
Celera1529,843,527 - 29,843,679RGD
Cytogenetic Map15q21.2-q21.3UniSTS
HuRef1529,779,061 - 29,779,213UniSTS
D15S860  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371552,957,294 - 52,957,400UniSTSGRCh37
Build 361550,744,586 - 50,744,692RGDNCBI36
Celera1529,852,338 - 29,852,444RGD
Cytogenetic Map15q21.2-q21.3UniSTS
HuRef1529,787,862 - 29,787,968UniSTS
STS-T68831  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371552,948,353 - 52,948,597UniSTSGRCh37
Build 361550,735,645 - 50,735,889RGDNCBI36
Celera1529,843,390 - 29,843,634RGD
Cytogenetic Map15q21.2-q21.3UniSTS
HuRef1529,778,924 - 29,779,168UniSTS
GeneMap99-GB4 RH Map15179.76UniSTS
NCBI RH Map15271.1UniSTS
WI-16877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371552,887,072 - 52,887,197UniSTSGRCh37
Build 361550,674,364 - 50,674,489RGDNCBI36
Celera1529,782,117 - 29,782,242RGD
Cytogenetic Map15q21.2-q21.3UniSTS
HuRef1529,717,680 - 29,717,805UniSTS
GeneMap99-GB4 RH Map15179.15UniSTS
Whitehead-RH Map15151.6UniSTS
SGC31343  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371552,874,363 - 52,874,493UniSTSGRCh37
Build 361550,661,655 - 50,661,785RGDNCBI36
Celera1529,769,412 - 29,769,542RGD
Cytogenetic Map15q21.2-q21.3UniSTS
HuRef1529,704,975 - 29,705,105UniSTS
GeneMap99-GB4 RH Map15181.49UniSTS
Whitehead-RH Map15151.2UniSTS


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 entire extraembryonic component
High
Medium 1368 939 1278 266 981 125 3201 1234 1413 163 1117 1240 145 1084 2179 2
Low 1066 2022 447 356 947 339 1153 957 2313 255 333 370 26 120 609 2
Below cutoff 27 22 1 5 4 6 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001286495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_019600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC058839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC083498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA101547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB227522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN990361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF454903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000261844   ⟹   ENSP00000261844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1552,581,321 - 52,678,623 (-)Ensembl
RefSeq Acc Id: ENST00000399202   ⟹   ENSP00000382153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1552,584,743 - 52,678,756 (-)Ensembl
RefSeq Acc Id: ENST00000534964   ⟹   ENSP00000444447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1552,581,321 - 52,678,759 (-)Ensembl
RefSeq Acc Id: ENST00000546305   ⟹   ENSP00000443598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1552,581,853 - 52,652,050 (-)Ensembl
RefSeq Acc Id: ENST00000561490   ⟹   ENSP00000457402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1552,611,625 - 52,709,817 (-)Ensembl
RefSeq Acc Id: ENST00000561543   ⟹   ENSP00000457120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1552,611,694 - 52,679,372 (-)Ensembl
RefSeq Acc Id: ENST00000562135   ⟹   ENSP00000457666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1552,611,233 - 52,678,756 (-)Ensembl
RefSeq Acc Id: ENST00000562351   ⟹   ENSP00000479280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1552,656,053 - 52,678,560 (-)Ensembl
RefSeq Acc Id: ENST00000566768   ⟹   ENSP00000455578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1552,611,601 - 52,679,372 (-)Ensembl
RefSeq Acc Id: ENST00000566948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1552,586,022 - 52,608,596 (-)Ensembl
RefSeq Acc Id: ENST00000568637   ⟹   ENSP00000458036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1552,582,188 - 52,601,164 (-)Ensembl
RefSeq Acc Id: ENST00000568668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1552,593,417 - 52,605,191 (-)Ensembl
RefSeq Acc Id: ENST00000568863   ⟹   ENSP00000456725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1552,611,711 - 52,678,221 (-)Ensembl
RefSeq Acc Id: ENST00000568871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1552,581,317 - 52,585,323 (-)Ensembl
RefSeq Acc Id: ENST00000570204   ⟹   ENSP00000455002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1552,584,905 - 52,605,177 (-)Ensembl
RefSeq Acc Id: ENST00000619572   ⟹   ENSP00000484641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1552,581,321 - 52,679,388 (-)Ensembl
RefSeq Acc Id: NM_001286495   ⟹   NP_001273424
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,652,040 (-)NCBI
HuRef1529,704,130 - 29,801,406 (-)NCBI
CHM1_11552,991,469 - 53,062,154 (-)NCBI
T2T-CHM13v2.01550,389,635 - 50,460,292 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385013   ⟹   NP_001371942
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,709,815 (-)NCBI
T2T-CHM13v2.01550,389,635 - 50,518,064 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385014   ⟹   NP_001371943
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,709,815 (-)NCBI
T2T-CHM13v2.01550,389,635 - 50,518,064 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385015   ⟹   NP_001371944
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,679,388 (-)NCBI
T2T-CHM13v2.01550,389,635 - 50,487,643 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385016   ⟹   NP_001371945
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,679,388 (-)NCBI
T2T-CHM13v2.01550,389,635 - 50,487,643 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385017   ⟹   NP_001371946
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,678,757 (-)NCBI
T2T-CHM13v2.01550,389,635 - 50,487,012 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385018   ⟹   NP_001371947
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,678,757 (-)NCBI
T2T-CHM13v2.01550,389,635 - 50,487,012 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385019   ⟹   NP_001371948
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,709,815 (-)NCBI
T2T-CHM13v2.01550,389,635 - 50,518,064 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385020   ⟹   NP_001371949
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,652,040 (-)NCBI
T2T-CHM13v2.01550,389,635 - 50,460,292 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385021   ⟹   NP_001371950
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,709,815 (-)NCBI
T2T-CHM13v2.01550,389,635 - 50,518,064 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385022   ⟹   NP_001371951
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,679,388 (-)NCBI
T2T-CHM13v2.01550,389,635 - 50,487,643 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385023   ⟹   NP_001371952
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,678,757 (-)NCBI
T2T-CHM13v2.01550,389,635 - 50,487,012 (-)NCBI
Sequence:
RefSeq Acc Id: NM_019600   ⟹   NP_062546
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,678,757 (-)NCBI
GRCh371552,873,518 - 52,971,569 (-)NCBI
Build 361550,660,810 - 50,758,112 (-)NCBI Archive
Celera1529,768,567 - 29,865,870 (-)RGD
HuRef1529,704,130 - 29,801,406 (-)NCBI
CHM1_11552,991,469 - 53,088,737 (-)NCBI
T2T-CHM13v2.01550,389,635 - 50,487,012 (-)NCBI
Sequence:
RefSeq Acc Id: NR_104457
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,678,757 (-)NCBI
HuRef1529,704,130 - 29,801,406 (-)NCBI
CHM1_11552,991,469 - 53,088,737 (-)NCBI
T2T-CHM13v2.01550,389,635 - 50,487,012 (-)NCBI
Sequence:
RefSeq Acc Id: NR_169533
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,656,172 - 52,709,815 (-)NCBI
T2T-CHM13v2.01550,464,429 - 50,518,064 (-)NCBI
Sequence:
RefSeq Acc Id: NR_169534
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,656,172 - 52,679,388 (-)NCBI
T2T-CHM13v2.01550,464,429 - 50,487,643 (-)NCBI
Sequence:
RefSeq Acc Id: NR_169535
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,656,172 - 52,678,757 (-)NCBI
T2T-CHM13v2.01550,464,429 - 50,487,012 (-)NCBI
Sequence:
RefSeq Acc Id: NR_169536
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,679,388 (-)NCBI
T2T-CHM13v2.01550,389,635 - 50,487,643 (-)NCBI
Sequence:
RefSeq Acc Id: NR_169537
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,656,172 - 52,679,388 (-)NCBI
T2T-CHM13v2.01550,464,429 - 50,487,643 (-)NCBI
Sequence:
RefSeq Acc Id: NR_169538
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,679,388 (-)NCBI
T2T-CHM13v2.01550,389,635 - 50,487,643 (-)NCBI
Sequence:
RefSeq Acc Id: NR_169539
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,656,172 - 52,679,388 (-)NCBI
T2T-CHM13v2.01550,464,429 - 50,487,643 (-)NCBI
Sequence:
RefSeq Acc Id: NR_169540
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,656,172 - 52,679,388 (-)NCBI
T2T-CHM13v2.01550,464,429 - 50,487,643 (-)NCBI
Sequence:
RefSeq Acc Id: NR_169541
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,656,172 - 52,679,388 (-)NCBI
T2T-CHM13v2.01550,464,429 - 50,487,643 (-)NCBI
Sequence:
RefSeq Acc Id: NR_169542
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,678,757 (-)NCBI
T2T-CHM13v2.01550,389,635 - 50,487,012 (-)NCBI
Sequence:
RefSeq Acc Id: NR_169543
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,678,757 (-)NCBI
T2T-CHM13v2.01550,389,635 - 50,487,012 (-)NCBI
Sequence:
RefSeq Acc Id: NR_169544
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,679,388 (-)NCBI
T2T-CHM13v2.01550,389,635 - 50,487,643 (-)NCBI
Sequence:
RefSeq Acc Id: NR_169545
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,678,757 (-)NCBI
T2T-CHM13v2.01550,389,635 - 50,487,012 (-)NCBI
Sequence:
RefSeq Acc Id: NR_169546
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,656,172 - 52,678,757 (-)NCBI
T2T-CHM13v2.01550,464,429 - 50,487,012 (-)NCBI
Sequence:
RefSeq Acc Id: NR_169547
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,678,757 (-)NCBI
T2T-CHM13v2.01550,389,635 - 50,487,012 (-)NCBI
Sequence:
RefSeq Acc Id: NR_169548
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,656,172 - 52,678,757 (-)NCBI
T2T-CHM13v2.01550,464,429 - 50,487,012 (-)NCBI
Sequence:
RefSeq Acc Id: NR_169549
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,678,757 (-)NCBI
T2T-CHM13v2.01550,389,635 - 50,487,012 (-)NCBI
Sequence:
RefSeq Acc Id: NR_169550
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,656,172 - 52,678,757 (-)NCBI
T2T-CHM13v2.01550,464,429 - 50,487,012 (-)NCBI
Sequence:
RefSeq Acc Id: NR_169551
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,652,040 (-)NCBI
T2T-CHM13v2.01550,389,635 - 50,460,292 (-)NCBI
Sequence:
RefSeq Acc Id: NR_169552
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,652,040 (-)NCBI
T2T-CHM13v2.01550,389,635 - 50,460,292 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024449991   ⟹   XP_024305759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,679,714 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047432857   ⟹   XP_047288813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,679,388 (-)NCBI
RefSeq Acc Id: XM_047432858   ⟹   XP_047288814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,678,757 (-)NCBI
RefSeq Acc Id: XM_047432859   ⟹   XP_047288815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,679,388 (-)NCBI
RefSeq Acc Id: XM_047432860   ⟹   XP_047288816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,678,757 (-)NCBI
RefSeq Acc Id: XM_047432861   ⟹   XP_047288817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,709,815 (-)NCBI
RefSeq Acc Id: XM_047432862   ⟹   XP_047288818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,679,388 (-)NCBI
RefSeq Acc Id: XM_047432863   ⟹   XP_047288819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,581,321 - 52,679,714 (-)NCBI
RefSeq Acc Id: XM_054378449   ⟹   XP_054234424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01550,389,635 - 50,487,643 (-)NCBI
RefSeq Acc Id: XM_054378450   ⟹   XP_054234425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01550,389,635 - 50,487,911 (-)NCBI
RefSeq Acc Id: XM_054378451   ⟹   XP_054234426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01550,389,635 - 50,487,012 (-)NCBI
RefSeq Acc Id: XM_054378452   ⟹   XP_054234427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01550,389,635 - 50,487,643 (-)NCBI
RefSeq Acc Id: XM_054378453   ⟹   XP_054234428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01550,389,635 - 50,487,012 (-)NCBI
RefSeq Acc Id: XM_054378454   ⟹   XP_054234429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01550,389,635 - 50,518,064 (-)NCBI
RefSeq Acc Id: XM_054378455   ⟹   XP_054234430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01550,389,635 - 50,487,643 (-)NCBI
RefSeq Acc Id: XM_054378456   ⟹   XP_054234431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01550,389,635 - 50,487,911 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001273424 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371942 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371943 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371944 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371945 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371946 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371947 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371948 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371949 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371950 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371951 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371952 (Get FASTA)   NCBI Sequence Viewer  
  NP_062546 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305759 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288813 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288814 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288815 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288816 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288817 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288818 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288819 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234424 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234425 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234426 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234427 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234428 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234429 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234430 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234431 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH40548 (Get FASTA)   NCBI Sequence Viewer  
  AAH58839 (Get FASTA)   NCBI Sequence Viewer  
  AAH73908 (Get FASTA)   NCBI Sequence Viewer  
  AAH83498 (Get FASTA)   NCBI Sequence Viewer  
  AAI09128 (Get FASTA)   NCBI Sequence Viewer  
  AAI09129 (Get FASTA)   NCBI Sequence Viewer  
  BAA91936 (Get FASTA)   NCBI Sequence Viewer  
  BAA92608 (Get FASTA)   NCBI Sequence Viewer  
  BAF85606 (Get FASTA)   NCBI Sequence Viewer  
  BAG57156 (Get FASTA)   NCBI Sequence Viewer  
  BAG57301 (Get FASTA)   NCBI Sequence Viewer  
  CAH56350 (Get FASTA)   NCBI Sequence Viewer  
  EAW77457 (Get FASTA)   NCBI Sequence Viewer  
  EAW77458 (Get FASTA)   NCBI Sequence Viewer  
  EAW77459 (Get FASTA)   NCBI Sequence Viewer  
  EAW77460 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000261844
  ENSP00000261844.7
  ENSP00000382153
  ENSP00000382153.4
  ENSP00000443598
  ENSP00000443598.2
  ENSP00000444447.2
  ENSP00000455002.1
  ENSP00000455578.1
  ENSP00000456725.1
  ENSP00000457120.1
  ENSP00000457402.1
  ENSP00000457666.1
  ENSP00000458036.1
  ENSP00000479280.1
  ENSP00000484641
  ENSP00000484641.1
GenBank Protein Q32MH5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_062546   ⟸   NM_019600
- Peptide Label: isoform 1
- UniProtKB: Q9NV24 (UniProtKB/Swiss-Prot),   Q6PDA3 (UniProtKB/Swiss-Prot),   Q5XJ16 (UniProtKB/Swiss-Prot),   Q4G0R7 (UniProtKB/Swiss-Prot),   Q32MH6 (UniProtKB/Swiss-Prot),   F5H8G0 (UniProtKB/Swiss-Prot),   B4DF40 (UniProtKB/Swiss-Prot),   B4DEP5 (UniProtKB/Swiss-Prot),   A8KA52 (UniProtKB/Swiss-Prot),   Q9P2H7 (UniProtKB/Swiss-Prot),   Q32MH5 (UniProtKB/Swiss-Prot),   H0Y3Q9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273424   ⟸   NM_001286495
- Peptide Label: isoform 2
- UniProtKB: H0Y3Q9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024305759   ⟸   XM_024449991
- Peptide Label: isoform X1
- UniProtKB: Q9NV24 (UniProtKB/Swiss-Prot),   Q6PDA3 (UniProtKB/Swiss-Prot),   Q5XJ16 (UniProtKB/Swiss-Prot),   Q4G0R7 (UniProtKB/Swiss-Prot),   Q32MH6 (UniProtKB/Swiss-Prot),   Q32MH5 (UniProtKB/Swiss-Prot),   F5H8G0 (UniProtKB/Swiss-Prot),   B4DF40 (UniProtKB/Swiss-Prot),   B4DEP5 (UniProtKB/Swiss-Prot),   A8KA52 (UniProtKB/Swiss-Prot),   Q9P2H7 (UniProtKB/Swiss-Prot),   H0Y3Q9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000382153   ⟸   ENST00000399202
RefSeq Acc Id: ENSP00000455002   ⟸   ENST00000570204
RefSeq Acc Id: ENSP00000443598   ⟸   ENST00000546305
RefSeq Acc Id: ENSP00000444447   ⟸   ENST00000534964
RefSeq Acc Id: ENSP00000457120   ⟸   ENST00000561543
RefSeq Acc Id: ENSP00000457402   ⟸   ENST00000561490
RefSeq Acc Id: ENSP00000479280   ⟸   ENST00000562351
RefSeq Acc Id: ENSP00000457666   ⟸   ENST00000562135
RefSeq Acc Id: ENSP00000261844   ⟸   ENST00000261844
RefSeq Acc Id: ENSP00000484641   ⟸   ENST00000619572
RefSeq Acc Id: ENSP00000455578   ⟸   ENST00000566768
RefSeq Acc Id: ENSP00000456725   ⟸   ENST00000568863
RefSeq Acc Id: ENSP00000458036   ⟸   ENST00000568637
RefSeq Acc Id: NP_001371950   ⟸   NM_001385021
- Peptide Label: isoform 5
- UniProtKB: H0Y3Q9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371942   ⟸   NM_001385013
- Peptide Label: isoform 1
- UniProtKB: Q9NV24 (UniProtKB/Swiss-Prot),   Q6PDA3 (UniProtKB/Swiss-Prot),   Q5XJ16 (UniProtKB/Swiss-Prot),   Q4G0R7 (UniProtKB/Swiss-Prot),   Q32MH6 (UniProtKB/Swiss-Prot),   Q32MH5 (UniProtKB/Swiss-Prot),   F5H8G0 (UniProtKB/Swiss-Prot),   B4DF40 (UniProtKB/Swiss-Prot),   B4DEP5 (UniProtKB/Swiss-Prot),   A8KA52 (UniProtKB/Swiss-Prot),   Q9P2H7 (UniProtKB/Swiss-Prot),   H0Y3Q9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371948   ⟸   NM_001385019
- Peptide Label: isoform 3
- UniProtKB: H0Y3Q9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371943   ⟸   NM_001385014
- Peptide Label: isoform 1
- UniProtKB: Q9NV24 (UniProtKB/Swiss-Prot),   Q6PDA3 (UniProtKB/Swiss-Prot),   Q5XJ16 (UniProtKB/Swiss-Prot),   Q4G0R7 (UniProtKB/Swiss-Prot),   Q32MH6 (UniProtKB/Swiss-Prot),   Q32MH5 (UniProtKB/Swiss-Prot),   F5H8G0 (UniProtKB/Swiss-Prot),   B4DF40 (UniProtKB/Swiss-Prot),   B4DEP5 (UniProtKB/Swiss-Prot),   A8KA52 (UniProtKB/Swiss-Prot),   Q9P2H7 (UniProtKB/Swiss-Prot),   H0Y3Q9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371944   ⟸   NM_001385015
- Peptide Label: isoform 1
- UniProtKB: Q9NV24 (UniProtKB/Swiss-Prot),   Q6PDA3 (UniProtKB/Swiss-Prot),   Q5XJ16 (UniProtKB/Swiss-Prot),   Q4G0R7 (UniProtKB/Swiss-Prot),   Q32MH6 (UniProtKB/Swiss-Prot),   Q32MH5 (UniProtKB/Swiss-Prot),   F5H8G0 (UniProtKB/Swiss-Prot),   B4DF40 (UniProtKB/Swiss-Prot),   B4DEP5 (UniProtKB/Swiss-Prot),   A8KA52 (UniProtKB/Swiss-Prot),   Q9P2H7 (UniProtKB/Swiss-Prot),   H0Y3Q9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371951   ⟸   NM_001385022
- Peptide Label: isoform 6
- UniProtKB: H0Y3Q9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371945   ⟸   NM_001385016
- Peptide Label: isoform 1
- UniProtKB: Q9NV24 (UniProtKB/Swiss-Prot),   Q6PDA3 (UniProtKB/Swiss-Prot),   Q5XJ16 (UniProtKB/Swiss-Prot),   Q4G0R7 (UniProtKB/Swiss-Prot),   Q32MH6 (UniProtKB/Swiss-Prot),   Q32MH5 (UniProtKB/Swiss-Prot),   F5H8G0 (UniProtKB/Swiss-Prot),   B4DF40 (UniProtKB/Swiss-Prot),   B4DEP5 (UniProtKB/Swiss-Prot),   A8KA52 (UniProtKB/Swiss-Prot),   Q9P2H7 (UniProtKB/Swiss-Prot),   H0Y3Q9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371952   ⟸   NM_001385023
- Peptide Label: isoform 6
- UniProtKB: H0Y3Q9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371946   ⟸   NM_001385017
- Peptide Label: isoform 1
- UniProtKB: Q9NV24 (UniProtKB/Swiss-Prot),   Q6PDA3 (UniProtKB/Swiss-Prot),   Q5XJ16 (UniProtKB/Swiss-Prot),   Q4G0R7 (UniProtKB/Swiss-Prot),   Q32MH6 (UniProtKB/Swiss-Prot),   Q32MH5 (UniProtKB/Swiss-Prot),   F5H8G0 (UniProtKB/Swiss-Prot),   B4DF40 (UniProtKB/Swiss-Prot),   B4DEP5 (UniProtKB/Swiss-Prot),   A8KA52 (UniProtKB/Swiss-Prot),   Q9P2H7 (UniProtKB/Swiss-Prot),   H0Y3Q9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371947   ⟸   NM_001385018
- Peptide Label: isoform 1
- UniProtKB: Q9NV24 (UniProtKB/Swiss-Prot),   Q6PDA3 (UniProtKB/Swiss-Prot),   Q5XJ16 (UniProtKB/Swiss-Prot),   Q4G0R7 (UniProtKB/Swiss-Prot),   Q32MH6 (UniProtKB/Swiss-Prot),   Q32MH5 (UniProtKB/Swiss-Prot),   F5H8G0 (UniProtKB/Swiss-Prot),   B4DF40 (UniProtKB/Swiss-Prot),   B4DEP5 (UniProtKB/Swiss-Prot),   A8KA52 (UniProtKB/Swiss-Prot),   Q9P2H7 (UniProtKB/Swiss-Prot),   H0Y3Q9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001371949   ⟸   NM_001385020
- Peptide Label: isoform 4
- UniProtKB: H0Y3Q9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288817   ⟸   XM_047432861
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047288819   ⟸   XM_047432863
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047288818   ⟸   XM_047432862
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047288813   ⟸   XM_047432857
- Peptide Label: isoform X1
- UniProtKB: Q9NV24 (UniProtKB/Swiss-Prot),   Q6PDA3 (UniProtKB/Swiss-Prot),   Q5XJ16 (UniProtKB/Swiss-Prot),   Q4G0R7 (UniProtKB/Swiss-Prot),   Q32MH6 (UniProtKB/Swiss-Prot),   Q32MH5 (UniProtKB/Swiss-Prot),   F5H8G0 (UniProtKB/Swiss-Prot),   B4DF40 (UniProtKB/Swiss-Prot),   B4DEP5 (UniProtKB/Swiss-Prot),   A8KA52 (UniProtKB/Swiss-Prot),   Q9P2H7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047288815   ⟸   XM_047432859
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047288816   ⟸   XM_047432860
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047288814   ⟸   XM_047432858
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054234429   ⟸   XM_054378454
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054234431   ⟸   XM_054378456
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054234425   ⟸   XM_054378450
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054234430   ⟸   XM_054378455
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054234424   ⟸   XM_054378449
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054234427   ⟸   XM_054378452
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054234428   ⟸   XM_054378453
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054234426   ⟸   XM_054378451
- Peptide Label: isoform X2
Protein Domains
Atos-like conserved

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q32MH5-F1-model_v2 AlphaFold Q32MH5 1-1076 view protein structure

Promoters
RGD ID:6810776
Promoter ID:HG_ACW:26283
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:KIAA1370.FAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361550,731,296 - 50,731,796 (-)MPROMDB
RGD ID:6814437
Promoter ID:HG_MGC:190
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:BC109127,   BC109128
Position:
Human AssemblyChrPosition (strand)Source
Build 361550,757,329 - 50,757,829 (-)MPROMDB
RGD ID:6792401
Promoter ID:HG_KWN:21437
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_019600,   UC002ACH.2,   UC010BFG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361550,758,181 - 50,758,937 (-)MPROMDB
RGD ID:7229541
Promoter ID:EPDNEW_H20515
Type:multiple initiation site
Name:KIAA1370_3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20516  EPDNEW_H20518  EPDNEW_H20517  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,668,783 - 52,668,843EPDNEW
RGD ID:7229539
Promoter ID:EPDNEW_H20516
Type:initiation region
Name:KIAA1370_4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20515  EPDNEW_H20518  EPDNEW_H20517  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,678,639 - 52,678,699EPDNEW
RGD ID:7229545
Promoter ID:EPDNEW_H20517
Type:initiation region
Name:KIAA1370_1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20516  EPDNEW_H20515  EPDNEW_H20518  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,678,757 - 52,678,817EPDNEW
RGD ID:7229543
Promoter ID:EPDNEW_H20518
Type:multiple initiation site
Name:KIAA1370_2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20516  EPDNEW_H20515  EPDNEW_H20517  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,709,815 - 52,709,875EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25609 AgrOrtholog
COSMIC ATOSA COSMIC
Ensembl Genes ENSG00000047346 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000261844 ENTREZGENE
  ENST00000261844.11 UniProtKB/Swiss-Prot
  ENST00000399202 ENTREZGENE
  ENST00000399202.8 UniProtKB/TrEMBL
  ENST00000534964 ENTREZGENE
  ENST00000534964.6 UniProtKB/Swiss-Prot
  ENST00000546305 ENTREZGENE
  ENST00000546305.6 UniProtKB/Swiss-Prot
  ENST00000561490.5 UniProtKB/TrEMBL
  ENST00000561543.5 UniProtKB/TrEMBL
  ENST00000562135.5 UniProtKB/TrEMBL
  ENST00000562351 ENTREZGENE
  ENST00000562351.2 UniProtKB/TrEMBL
  ENST00000566768.5 UniProtKB/TrEMBL
  ENST00000568637.5 UniProtKB/TrEMBL
  ENST00000568863.1 UniProtKB/TrEMBL
  ENST00000570204.1 UniProtKB/TrEMBL
  ENST00000619572 ENTREZGENE
  ENST00000619572.5 UniProtKB/Swiss-Prot
GTEx ENSG00000047346 GTEx
HGNC ID HGNC:25609 ENTREZGENE
Human Proteome Map ATOSA Human Proteome Map
InterPro DUF4210 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAM214/SPAC3H8.04_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56204 UniProtKB/Swiss-Prot
NCBI Gene 56204 ENTREZGENE
OMIM 620168 OMIM
PANTHER GH03947P UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN FAM214A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Chromosome_seg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF4210 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671609 PharmGKB
SMART DUF4210 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WV94_HUMAN UniProtKB/TrEMBL
  A8KA52 ENTREZGENE
  B4DEP5 ENTREZGENE
  B4DF40 ENTREZGENE
  F214A_HUMAN UniProtKB/Swiss-Prot
  F5H8G0 ENTREZGENE
  H0Y3Q9 ENTREZGENE, UniProtKB/TrEMBL
  H3BNT9_HUMAN UniProtKB/TrEMBL
  H3BQ29_HUMAN UniProtKB/TrEMBL
  H3BSJ2_HUMAN UniProtKB/TrEMBL
  H3BTD0_HUMAN UniProtKB/TrEMBL
  H3BU00_HUMAN UniProtKB/TrEMBL
  H3BUJ2_HUMAN UniProtKB/TrEMBL
  H3BVB3_HUMAN UniProtKB/TrEMBL
  Q32MH5 ENTREZGENE
  Q32MH6 ENTREZGENE
  Q4G0R7 ENTREZGENE
  Q5XJ16 ENTREZGENE
  Q6PDA3 ENTREZGENE
  Q9NV24 ENTREZGENE
  Q9P2H7 ENTREZGENE
UniProt Secondary A8KA52 UniProtKB/Swiss-Prot
  B4DEP5 UniProtKB/Swiss-Prot
  B4DF40 UniProtKB/Swiss-Prot
  F5H8G0 UniProtKB/Swiss-Prot
  Q32MH6 UniProtKB/Swiss-Prot
  Q4G0R7 UniProtKB/Swiss-Prot
  Q5XJ16 UniProtKB/Swiss-Prot
  Q6PDA3 UniProtKB/Swiss-Prot
  Q9NV24 UniProtKB/Swiss-Prot
  Q9P2H7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-07-11 ATOSA  atos homolog A  FAM214A  family with sequence similarity 214 member A  Symbol and/or name change 19259463 PROVISIONAL
2015-11-24 FAM214A  family with sequence similarity 214 member A    family with sequence similarity 214, member A  Symbol and/or name change 5135510 APPROVED
2011-12-06 FAM214A  family with sequence similarity 214, member A  KIAA1370  KIAA1370  Symbol and/or name change 5135510 APPROVED