SULT1A4 (sulfotransferase family 1A member 4)

Gene: SULT1A4 (sulfotransferase family 1A member 4) Homo sapiens

Analyze

No known orthologs.

Symbol:

SULT1A4

Name:

sulfotransferase family 1A member 4

RGD ID:

1604886

HGNC Page

HGNC:30004

Description:

Enables amine sulfotransferase activity; aryl sulfotransferase activity; and sulfate binding activity. Involved in several processes, including 3'-phosphoadenosine 5'-phosphosulfate metabolic process; dopamine catabolic process; and ethanol catabolic process. Predicted to be located in cytosol. Predicted to be active in cytoplasm.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

aryl sulfotransferase 1A3/1A4; catecholamine-sulfating phenol sulfotransferase; FLJ54864; HAST3; M-PST; monoamine-sulfating phenol sulfotransferase; phenol sulfotransferase; placental estrogen sulfotransferase; SLX1B-SULT1A4; ST1A3; ST1A3/ST1A4; ST1A4; STM; sulfokinase; Sulfotransferase 1A3; sulfotransferase 1A3/1A4; sulfotransferase 1A4; sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4; sulfotransferase, monoamine-preferring; SULT1A3; thermolabile phenol sulfotransferase; TL-PST

RGD Orthologs

Alliance Genes

More Info

homologs ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	29,459,913 - 29,464,966 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	29,459,913 - 29,464,966 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	29,471,234 - 29,476,287 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	29,373,902 - 29,383,783 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Cytogenetic Map	16	p11.2	NCBI
CHM1_1	16	30,483,036 - 30,488,130 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	16	29,741,703 - 29,746,756 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autism spectrum disorder (IAGP)

autistic disorder (IAGP)

chromosome 16p11.2 deletion syndrome, 593-kb (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-catechin (EXP)

(S)-ropivacaine (EXP)

17beta-estradiol (EXP)

2,2',4,4'-Tetrabromodiphenyl ether (EXP)

2-amino-14,16-dimethyloctadecan-3-ol (EXP)

3,3',5,5'-tetrabromobisphenol A (EXP)

aflatoxin B1 (EXP)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (EXP)

caffeine (EXP)

colforsin daropate hydrochloride (EXP)

decabromodiphenyl ether (EXP)

irinotecan (EXP)

paracetamol (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

3'-phosphoadenosine 5'-phosphosulfate metabolic process (IDA)

catecholamine metabolic process (IEA)

cellular response to dopamine (IMP)

dopamine catabolic process (IDA)

dopamine metabolic process (IMP)

ethanol catabolic process (IDA)

flavonoid metabolic process (IDA)

steroid metabolic process (IEA)

sulfation (IBA,IDA,IEA)

xenobiotic metabolic process (IDA)

Cellular Component

cytoplasm (IBA,IEA)

cytosol (TAS)

Molecular Function

amine sulfotransferase activity (IDA)

aryl sulfotransferase activity (IBA,IEA,IMP)

protein binding (IPI)

sulfate binding (IDA)

sulfotransferase activity (IDA,IEA)

transferase activity (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

paracetamol pharmacokinetics pathway (TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autism (IAGP)

Autistic behavior (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Metabolism and disposition of acetaminophen: recent advances in relation to hepatotoxicity and diagnosis.	McGill MR and Jaeschke H, Pharm Res. 2013 Sep;30(9):2174-87. doi: 10.1007/s11095-013-1007-6. Epub 2013 Mar 6.
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:7961757	PMID:8117269	PMID:8363592	PMID:9034160	PMID:9855620	PMID:10543947	PMID:10720750	PMID:11154739	PMID:12477932	PMID:15358107	PMID:15752422	PMID:17425406
PMID:20056724	PMID:21873635	PMID:22939629	PMID:23207770	PMID:24136195	PMID:25416956	PMID:29509190	PMID:29705271	PMID:31145702	PMID:32152050	PMID:34857952	PMID:35944360

Genomics

Variants

Variants in SULT1A4
1 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x3	copy number gain	See cases [RCV000050652]	Chr16:29227272..30179247 [GRCh38] Chr16:29238593..30190568 [GRCh37] Chr16:29146094..30098069 [NCBI36] Chr16:16p11.2	pathogenic\|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1	copy number loss	See cases [RCV000050653]	Chr16:29227272..30179247 [GRCh38] Chr16:29238593..30190568 [GRCh37] Chr16:29146094..30098069 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:29227272-30321260)x3	copy number gain	See cases [RCV000051168]	Chr16:29227272..30321260 [GRCh38] Chr16:29238593..30332581 [GRCh37] Chr16:29146094..30240082 [NCBI36] Chr16:16p11.2	pathogenic\|uncertain significance
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	copy number gain	See cases [RCV000052401]	Chr16:23047969..30632245 [GRCh38] Chr16:23059290..30643566 [GRCh37] Chr16:22966791..30551067 [NCBI36] Chr16:16p12.2-11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1	copy number loss	See cases [RCV000052520]	Chr16:28456967..30295107 [GRCh38] Chr16:28468288..30306428 [GRCh37] Chr16:28375789..30213929 [NCBI36] Chr16:16p12.1-11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1	copy number loss	See cases [RCV000054252]	Chr16:28492482..30179247 [GRCh38] Chr16:28503803..30190568 [GRCh37] Chr16:28411304..30098069 [NCBI36] Chr16:16p12.1-11.2	pathogenic\|uncertain significance\|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1	copy number loss	See cases [RCV000054253]	Chr16:28531783..30183432 [GRCh38] Chr16:28543104..30194753 [GRCh37] Chr16:28450605..30102254 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28366111-30183432)x3	copy number gain	See cases [RCV000054346]	Chr16:28366111..30183432 [GRCh38] Chr16:28377432..30194753 [GRCh37] Chr16:28284933..30102254 [NCBI36] Chr16:16p12.1-11.2	pathogenic\|uncertain significance
GRCh38/hg38 16p11.2(chr16:29086504-30333716)x3	copy number gain	See cases [RCV000054347]	Chr16:29086504..30333716 [GRCh38] Chr16:29097825..30345037 [GRCh37] Chr16:29005326..30252538 [NCBI36] Chr16:16p11.2	pathogenic\|uncertain significance
GRCh38/hg38 16p11.2(chr16:29441012-30183432)x3	copy number gain	See cases [RCV000054255]	Chr16:29441012..30183432 [GRCh38] Chr16:29452333..30194753 [GRCh37] Chr16:29359834..30102254 [NCBI36] Chr16:16p11.2	pathogenic\|uncertain significance
GRCh38/hg38 16p12.1-11.2(chr16:28293803-29531653)x3	copy number gain	See cases [RCV000053118]	Chr16:28293803..29531653 [GRCh38] Chr16:28305124..29542974 [GRCh37] Chr16:28212625..29450475 [NCBI36] Chr16:16p12.1-11.2	uncertain significance
GRCh38/hg38 16p11.2(chr16:29441012-30183432)x1	copy number loss	See cases [RCV000054256]	Chr16:29441012..30183432 [GRCh38] Chr16:29452333..30194753 [GRCh37] Chr16:29359834..30102254 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:29170620-30179388)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054348]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054348]\|See cases [RCV000054348]	Chr16:29170620..30179388 [GRCh38] Chr16:29181941..30190709 [GRCh37] Chr16:29089442..30098210 [NCBI36] Chr16:16p11.2	pathogenic\|uncertain significance
GRCh38/hg38 16p11.2(chr16:29441012-30323310)x3	copy number gain	See cases [RCV000054367]	Chr16:29441012..30323310 [GRCh38] Chr16:29452333..30334631 [GRCh37] Chr16:29359834..30242132 [NCBI36] Chr16:16p11.2	pathogenic\|uncertain significance
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x3	copy number gain	See cases [RCV000135765]	Chr16:28492482..30179247 [GRCh38] Chr16:28503803..30190568 [GRCh37] Chr16:28411304..30098069 [NCBI36] Chr16:16p12.1-11.2	pathogenic\|uncertain significance
GRCh38/hg38 16p11.2(chr16:29318115-30179272)x3	copy number gain	See cases [RCV000136065]	Chr16:29318115..30179272 [GRCh38] Chr16:29329436..30190593 [GRCh37] Chr16:29236937..30098094 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1	copy number loss	See cases [RCV000137580]	Chr16:28392832..30186020 [GRCh38] Chr16:28404153..30197341 [GRCh37] Chr16:28311654..30104842 [NCBI36] Chr16:16p12.1-11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:29427948-30320693)x3	copy number gain	See cases [RCV000137618]	Chr16:29427948..30320693 [GRCh38] Chr16:29439269..30332014 [GRCh37] Chr16:29346770..30239515 [NCBI36] Chr16:16p11.2	likely pathogenic
GRCh38/hg38 16p11.2(chr16:29318115-30321248)x3	copy number gain	See cases [RCV000138501]	Chr16:29318115..30321248 [GRCh38] Chr16:29329436..30332569 [GRCh37] Chr16:29236937..30240070 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28392832-30320693)x1	copy number loss	See cases [RCV000139916]	Chr16:28392832..30320693 [GRCh38] Chr16:28404153..30332014 [GRCh37] Chr16:28311654..30239515 [NCBI36] Chr16:16p12.1-11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	copy number gain	See cases [RCV000140341]	Chr16:27311746..31193406 [GRCh38] Chr16:27323067..31204727 [GRCh37] Chr16:27230568..31112228 [NCBI36] Chr16:16p12.1-11.2	pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	copy number gain	See cases [RCV000141141]	Chr16:23752047..31943755 [GRCh38] Chr16:23763368..31955076 [GRCh37] Chr16:23670869..31862577 [NCBI36] Chr16:16p12.2-11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:29427948-30186020)x1	copy number loss	See cases [RCV000141285]	Chr16:29427948..30186020 [GRCh38] Chr16:29439269..30197341 [GRCh37] Chr16:29346770..30104842 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:29420891-30166595)x1	copy number loss	See cases [RCV000143228]	Chr16:29420891..30166595 [GRCh38] Chr16:29432212..30177916 [GRCh37] Chr16:29339713..30085417 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1	copy number loss	See cases [RCV000148148]	Chr16:28492482..30179247 [GRCh38] Chr16:28503803..30190568 [GRCh37] Chr16:28411304..30098069 [NCBI36] Chr16:16p12.1-11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:29170820-30179247)x3	copy number gain	See cases [RCV000148119]	Chr16:29170820..30179247 [GRCh38] Chr16:29182141..30190568 [GRCh37] Chr16:29089642..30098069 [NCBI36] Chr16:16p11.2	uncertain significance
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x3	copy number gain	See cases [RCV000148125]	Chr16:29227272..30179247 [GRCh38] Chr16:29238593..30190568 [GRCh37] Chr16:29146094..30098069 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1	copy number loss	See cases [RCV000148095]	Chr16:29227272..30179247 [GRCh38] Chr16:29238593..30190568 [GRCh37] Chr16:29146094..30098069 [NCBI36] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29060171-30197341)x3	copy number gain	See cases [RCV000240123]	Chr16:29060171..30197341 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29060171-30195607)x3	copy number gain	See cases [RCV000239797]	Chr16:29060171..30195607 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	copy number gain	Breast ductal adenocarcinoma [RCV000207226]	Chr16:19590412..29814175 [GRCh37] Chr16:16p12.3-11.2	uncertain significance
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
NC_000016.10:g.(?_29390980)_(30215610_?)dup	duplication	Autism spectrum disorder [RCV000208728]	Chr16:29390980..30215610 [GRCh38] Chr16:29402301..30226931 [GRCh37] Chr16:16p11.2	likely pathogenic
GRCh37/hg19 16p11.2(chr16:29412503-30215621)x1	copy number loss	See cases [RCV000239420]	Chr16:29412503..30215621 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30177807)x1	copy number loss	See cases [RCV002285052]	Chr16:29432212..30177807 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	copy number gain	See cases [RCV000449403]	Chr16:19424115..30142220 [GRCh37] Chr16:16p12.3-11.2	pathogenic
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 16p11.2(chr16:29421694-30344958)x3	copy number gain	See cases [RCV000446565]	Chr16:29421694..30344958 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29351826-30191848)x1	copy number loss	See cases [RCV000445672]	Chr16:29351826..30191848 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30177240)x3	copy number gain	See cases [RCV000448489]	Chr16:29432212..30177240 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30332125)x3	copy number gain	See cases [RCV000448891]	Chr16:29432212..30332125 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30226930)x1	copy number loss	See cases [RCV000448182]	Chr16:29432212..30226930 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29060171-30197290)x3	copy number gain	See cases [RCV000448328]	Chr16:29060171..30197290 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29060171-29624872)x3	copy number gain	See cases [RCV000448672]	Chr16:29060171..29624872 [GRCh37] Chr16:16p11.2	benign
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	copy number loss	See cases [RCV000448084]	Chr16:28826162..29043901 [GRCh37] Chr16:16p11.2	likely pathogenic
GRCh37/hg19 16p11.2(chr16:29421662-30240227)x3	copy number gain	See cases [RCV000510272]	Chr16:29421662..30240227 [GRCh37] Chr16:16p11.2	likely pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	copy number gain	See cases [RCV000511622]	Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3	uncertain significance
GRCh37/hg19 16p11.2(chr16:28441538-30178406)x1	copy number loss	See cases [RCV000511533]	Chr16:28441538..30178406 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29421694-30240227)x3	copy number gain	See cases [RCV000511586]	Chr16:29421694..30240227 [GRCh37] Chr16:16p11.2	likely pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1	copy number loss	See cases [RCV000511271]	Chr16:21596299..30399167 [GRCh37] Chr16:16p12.2-11.2	pathogenic
maternal UPD(16p)	complex	Hemimegalencephaly [RCV000494707]	Chr16:1280042..33710558 [GRCh37] Chr16:16p13.3-11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29042050-30199025)	copy number loss	Proximal 16p11.2 microdeletion syndrome [RCV000767610]	Chr16:29042050..30199025 [GRCh37] Chr16:16p11.2	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
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	copy number gain	See cases [RCV000512428]	Chr16:18238275..30177240 [GRCh37] Chr16:16p12.3-11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29383808-30190029)x1	copy number loss	not provided [RCV000683807]	Chr16:29383808..30190029 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30191848)x1	copy number loss	not provided [RCV000683808]	Chr16:29432212..30191848 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29351826-30332071)x1	copy number loss	not provided [RCV000683806]	Chr16:29351826..30332071 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30339520)x1	copy number loss	not provided [RCV000683809]	Chr16:29432212..30339520 [GRCh37] Chr16:16p11.2	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-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 16p11.2(chr16:29464268-29485805)x1	copy number loss	not provided [RCV000739115]	Chr16:29464268..29485805 [GRCh37] Chr16:16p11.2	benign
Single allele	duplication	Autism [RCV000754182]	Chr16:29401125..30312960 [GRCh38] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28466730-30177916)x1	copy number loss	not provided [RCV000848428]	Chr16:28466730..30177916 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28466730-30191848)x1	copy number loss	not provided [RCV000846340]	Chr16:28466730..30191848 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28466730-30178406)x1	copy number loss	not provided [RCV001006789]	Chr16:28466730..30178406 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30178406)x1	copy number loss	not provided [RCV001006792]	Chr16:29432212..30178406 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3	copy number gain	not provided [RCV001249228]	Chr16:21312200..29646379 [GRCh37] Chr16:16p12.2-11.2	not provided
GRCh37/hg19 16p11.2(chr16:29432212-30177240)x1	copy number loss	not provided [RCV001006791]	Chr16:29432212..30177240 [GRCh37] Chr16:16p11.2	pathogenic
Single allele	deletion	Proximal 16p11.2 microdeletion syndrome [RCV001250752]	Chr16:29446604..30218886 [GRCh37] Chr16:16p11.2	risk factor
GRCh37/hg19 16p11.2(chr16:28466731-30321320)x1	copy number loss	not provided [RCV002472634]	Chr16:28466731..30321320 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29432213-30240227)x1	copy number loss	not provided [RCV002473521]	Chr16:29432213..30240227 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29448001-30302100)	copy number gain	See cases [RCV001263033]	Chr16:29448001..30302100 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29383808-30177240)x3	copy number gain	not provided [RCV001258617]	Chr16:29383808..30177240 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29443322-30320321)x3	copy number gain	not provided [RCV001281364]	Chr16:29443322..30320321 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28488319-30178406)x1	copy number loss	not provided [RCV001258616]	Chr16:28488319..30178406 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28485883-29589674)x1	copy number loss	not provided [RCV001834285]	Chr16:28485883..29589674 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1	copy number loss	not provided [RCV001795549]	Chr16:21594997..29625302 [GRCh37] Chr16:16p12.2-11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28353878-29478115)x3	copy number gain	Distal 16p11.2 microdeletion syndrome [RCV001801190]	Chr16:28353878..29478115 [GRCh37] Chr16:16p11.2	likely pathogenic
NC_000016.10:g.(29449194_29595531)_(30188533_30335547)del	deletion	See cases [RCV002227010]	Chr16:29595531..30188533 [GRCh38] Chr16:16p11.2	likely pathogenic\|low penetrance
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
GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	copy number gain	not provided [RCV002474541]	Chr16:21576803..30177240 [GRCh37] Chr16:16p12.2-11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29383809-29957798)x1	copy number loss	not provided [RCV003483286]	Chr16:29383809..29957798 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29412892-29580022)x1	copy number loss	not provided [RCV003483287]	Chr16:29412892..29580022 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:29432213-30226930)x1	copy number loss	not provided [RCV003483288]	Chr16:29432213..30226930 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29343245-30240227)x1	copy number loss	not provided [RCV003483285]	Chr16:29343245..30240227 [GRCh37] Chr16:16p11.2	pathogenic
NM_001017390.3(SULT1A4):c.42C>T (p.Tyr14=)	single nucleotide variant	not provided [RCV003426649]	Chr16:29461427 [GRCh38] Chr16:29472748 [GRCh37] Chr16:16p11.2	likely benign
GRCh38/hg38 16p11.2(chr16:29329272-30178707)x1	copy number loss	Proximal 16p11.2 microdeletion syndrome [RCV003883244]	Chr16:29329272..30178707 [GRCh38] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29383808-30191848)x1	copy number loss	not specified [RCV003987159]	Chr16:29383808..30191848 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29472703-30256894)x1	copy number loss	not provided [RCV003885479]	Chr16:29472703..30256894 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30178406)x1	copy number loss	not specified [RCV003987145]	Chr16:29432212..30178406 [GRCh37] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:29170820-30179247)x3	copy number gain	See cases [RCV000054364]	Chr16:29170820..30179247 [GRCh38] Chr16:29182141..30190568 [GRCh37] Chr16:29089642..30098069 [NCBI36] Chr16:16p11.2	pathogenic\|likely pathogenic\|uncertain significance\|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29227072-30179388)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054365]\|Global developmental delay [RCV000054366]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054365]\|See cases [RCV000054365]	Chr16:29227072..30179388 [GRCh38] Chr16:29238393..30190709 [GRCh37] Chr16:29145894..30098210 [NCBI36] Chr16:16p11.2	pathogenic\|uncertain significance
GRCh37/hg19 16p11.2(chr16:28486693-30197290)x1	copy number loss	See cases [RCV000447001]	Chr16:28486693..30197290 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	copy number gain	Microcephaly [RCV001252948]	Chr16:5805001..34230001 [GRCh37] Chr16:16p13.3-11.2	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 16p11.2(chr16:29464904-30233799)x3	copy number gain	Distal 16p11.2 microdeletion syndrome [RCV001801184]	Chr16:29464904..30233799 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29427215-30177240)x1	copy number loss	not specified [RCV003987165]	Chr16:29427215..30177240 [GRCh37] Chr16:16p11.2	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1878
Count of miRNA genes:	727
Interacting mature miRNAs:	832
Transcripts:	ENST00000344620, ENST00000360423, ENST00000395400, ENST00000562941, ENST00000563944, ENST00000565290, ENST00000569544
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region

RH80591

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	30,215,374 - 30,215,622	UniSTS	GRCh37
GRCh37	16	29,476,029 - 29,476,277	UniSTS	GRCh37
Build 36	16	29,383,530 - 29,383,778	RGD	NCBI36
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	16	p	UniSTS
HuRef	16	27,878,012 - 27,878,260	UniSTS

RH69023

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	30,215,133 - 30,215,289	UniSTS	GRCh37
GRCh37	16	29,475,788 - 29,475,944	UniSTS	GRCh37
Build 36	16	29,383,289 - 29,383,445	RGD	NCBI36
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	16	p	UniSTS
HuRef	16	27,877,771 - 27,877,927	UniSTS

RH92261

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	30,215,827 - 30,216,011	UniSTS	GRCh37
GRCh37	16	29,476,478 - 29,476,662	UniSTS	GRCh37
Build 36	16	29,383,979 - 29,384,163	RGD	NCBI36
Cytogenetic Map	16	p11.2	UniSTS
HuRef	16	27,878,465 - 27,878,649	UniSTS

D16S3176

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	28,608,874 - 28,609,025	UniSTS	GRCh37
Build 36	16	28,516,375 - 28,516,526	RGD	NCBI36
Cytogenetic Map	16	p12.1	UniSTS
Cytogenetic Map	16	p11.2	UniSTS
HuRef	16	26,634,484 - 26,634,635	UniSTS
HuRef	16	27,871,916 - 27,872,408	UniSTS

GDB:435498

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	30,214,051 - 30,214,567	UniSTS	GRCh37
GRCh37	16	29,474,706 - 29,475,222	UniSTS	GRCh37
Build 36	16	29,382,207 - 29,382,723	RGD	NCBI36
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	16	p	UniSTS
HuRef	16	27,876,689 - 27,877,205	UniSTS

GDB:453889

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	30,212,580 - 30,212,991	UniSTS	GRCh37
GRCh37	16	29,473,237 - 29,473,647	UniSTS	GRCh37
Build 36	16	29,380,738 - 29,381,148	RGD	NCBI36
Cytogenetic Map	16	p11.2	UniSTS
HuRef	16	27,875,220 - 27,875,630	UniSTS

GDB:626005

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	30,212,402 - 30,212,570	UniSTS	GRCh37
GRCh37	16	29,473,059 - 29,473,227	UniSTS	GRCh37
Build 36	16	29,380,560 - 29,380,728	RGD	NCBI36
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	16	p	UniSTS
HuRef	16	27,875,042 - 27,875,210	UniSTS

GDB:626032

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	30,212,402 - 30,214,080	UniSTS	GRCh37
GRCh37	16	29,473,059 - 29,474,735	UniSTS	GRCh37
Build 36	16	29,380,560 - 29,382,236	RGD	NCBI36
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	16	p	UniSTS
HuRef	16	27,875,042 - 27,876,718	UniSTS

RH133600

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	30,208,358 - 30,208,798	UniSTS	GRCh37
GRCh37	16	29,469,016 - 29,469,456	UniSTS	GRCh37
Build 36	16	29,376,517 - 29,376,957	RGD	NCBI36
HuRef	16	27,870,997 - 27,871,437	UniSTS

RH103211

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	30,208,369 - 30,208,804	UniSTS	GRCh37
GRCh37	16	29,469,027 - 29,469,462	UniSTS	GRCh37
Cytogenetic Map	16	p11.2	UniSTS
HuRef	16	27,871,008 - 27,871,443	UniSTS

GDB:574035

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	16	p	UniSTS
Cytogenetic Map	16	p11.2	UniSTS

GDB:579633

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	16	p	UniSTS
Cytogenetic Map	16	p12.1	UniSTS

GDB:594646

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	16	p12.1	UniSTS
Cytogenetic Map	16	p11.2	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

High

Medium

Low

2160

1758

1954

323

1240

152

2773

852

3149

1277

1933

171

1262

1698

Below cutoff

2258

4102

882

453

1114

300

5243

3324

3911

129

947

527

153

1141

3794

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001017390	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB111093	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB111094	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB111095	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB111096	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB111097	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB111098	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB111099	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC133555	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC245044	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK298073	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC078144	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC132914	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC132920	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC144354	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC144355	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC171772	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L25275	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U08032	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U34199	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000360423 ⟹ ENSP00000353600

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	29,459,913 - 29,464,966 (+)	Ensembl

RefSeq Acc Id:

ENST00000562941

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	29,461,729 - 29,463,955 (+)	Ensembl

RefSeq Acc Id:

ENST00000563944 ⟹ ENSP00000457597

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	29,461,725 - 29,464,687 (+)	Ensembl

RefSeq Acc Id:

ENST00000565290 ⟹ ENSP00000456834

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	29,461,386 - 29,464,575 (+)	Ensembl

RefSeq Acc Id:

ENST00000569544 ⟹ ENSP00000455063

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	29,461,382 - 29,464,326 (+)	Ensembl

RefSeq Acc Id:

NM_001017390 ⟹ NP_001017390

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	29,459,913 - 29,464,966 (+)	NCBI
GRCh37	16	29,471,207 - 29,476,301 (+)	ENTREZGENE
Build 36	16	29,378,695 - 29,383,783 (+)	NCBI Archive
CHM1_1	16	30,483,036 - 30,488,130 (+)	NCBI
T2T-CHM13v2.0	16	29,741,703 - 29,746,756 (+)	NCBI

Sequence:

show sequence

ACACTCCCTACACCACACCCATACTCAGCCCCTGCAGGCAAGGAGAGAACAGGTCAGGTTCCCG
AGAGCTCAGGAACATGGAGCTGATCCAGGACACCTCCCGCCCGCCACTGGAGTACGTGAAGGGG
GTCCCGCTCATCAAGTACTTTGCAGAGGCACTGGGGCCCCTGCAGAGCTTCCAAGCCCGACCTG
ATGACCTGCTCATCAACACCTACCCCAAGTCTGGCACCACCTGGGTGAGCCAGATACTGGACAT
GATCTACCAGGGCGGCGACCTAGAGAAGTGTAACCGGGCTCCCATCTACGTACGGGTGCCCTTC
CTTGAGGTCAATGATCCAGGGGAACCCTCAGGGCTGGAGACTCTGAAAGACACACCGCCCCCAC
GGCTCATCAAGTCACACCTGCCCCTGGCTCTGCTCCCTCAGACTCTGTTGGATCAGAAGGTCAA
GGTGGTCTATGTTGCCCGAAACCCAAAGGACGTGGCGGTCTCCTACTACCATTTCCACCGTATG
GAAAAGGCGCACCCTGAGCCTGGGACCTGGGACAGCTTCCTGGAAAAGTTCATGGCTGGAGAAG
TGTCCTACGGGTCCTGGTACCAGCACGTGCAGGAGTGGTGGGAGCTGAGCCGCACCCACCCTGT
TCTCTACCTCTTCTATGAAGACATGAAGGAGAACCCCAAAAGGGAGATTCAAAAGATCCTGGAG
TTTGTGGGGCGCTCCCTGCCAGAGGAGACCATGGACTTCATGGTTCAGCACACGTCGTTCAAGG
AGATGAAGAAGAACCCTATGACCAACTACACCACCGTCCCCCAGGAGCTCATGGACCACAGCAT
CTCCCCCTTCATGAGGAAAGGCATGGCTGGGGACTGGAAGACCACCTTCACCGTGGCGCAGAAT
GAGCGCTTCGATGCGGACTATGCGGAGAAGATGGCAGGCTGCAGCCTCAGCTTCCGCTCTGAGC
TGTGAGAGGGGCTCCTGGAGTCACTGCAGAGGGAGTGTGCGAATCTACCCTGACCAATGGGCTC
AAGAATAAAGTATGATTTTTGAGTCAGGCACAGTGGCTCATGTCTGCAATCCCAGCGATTTGGG
AGGTTGAGCTGGTAGGATCACAATAGGCCACGAATTTGAGACCAGCCTGGTAAAATAGTGAGAC
CTCATCTCTACAAAGATGTAAAAAAATTAGCCACATGTGCTGGCACTTACCTGTAGTCCCAGCT
ACTTGGGAAGCAGAGGCTGGAGGATCATTTCAGCCCAGGAGGTTGTGGATACAGTGAGTTATGA
CATGCCCATTCACTACAGCCTGGATGACAAGCAAGACCCTCCCTCCAAAGAAAATAAAGCTCAA
AATAAAATATGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001017390	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA17723	(Get FASTA)	NCBI Sequence Viewer
	AAA36523	(Get FASTA)	NCBI Sequence Viewer
	AAC99987	(Get FASTA)	NCBI Sequence Viewer
	AAH78144	(Get FASTA)	NCBI Sequence Viewer
	AAI32915	(Get FASTA)	NCBI Sequence Viewer
	AAI32921	(Get FASTA)	NCBI Sequence Viewer
	AAI44355	(Get FASTA)	NCBI Sequence Viewer
	AAI44356	(Get FASTA)	NCBI Sequence Viewer
	AAI71772	(Get FASTA)	NCBI Sequence Viewer
	BAE94927	(Get FASTA)	NCBI Sequence Viewer
	BAE94928	(Get FASTA)	NCBI Sequence Viewer
	BAE94929	(Get FASTA)	NCBI Sequence Viewer
	BAE94930	(Get FASTA)	NCBI Sequence Viewer
	BAE94931	(Get FASTA)	NCBI Sequence Viewer
	BAE94932	(Get FASTA)	NCBI Sequence Viewer
	BAE94933	(Get FASTA)	NCBI Sequence Viewer
	BAG60362	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000343645.6
	ENSP00000353600
	ENSP00000353600.8
	ENSP00000378570.2
	ENSP00000454518.1
	ENSP00000455063.1
	ENSP00000456391.1
	ENSP00000456834
	ENSP00000457597.1
GenBank Protein	P0DMM9	(Get FASTA)	NCBI Sequence Viewer
	P0DMN0	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001017390 ⟸ NM_001017390
- UniProtKB:	Q1ET66 (UniProtKB/Swiss-Prot), P50224 (UniProtKB/Swiss-Prot), O95603 (UniProtKB/Swiss-Prot), B4DNV0 (UniProtKB/Swiss-Prot), Q6ZWJ5 (UniProtKB/Swiss-Prot), P0DMN0 (UniProtKB/Swiss-Prot), P0DMM9 (UniProtKB/Swiss-Prot), Q1ET61 (UniProtKB/TrEMBL), B3KT14 (UniProtKB/TrEMBL), Q1ET62 (UniProtKB/TrEMBL), Q1ET63 (UniProtKB/TrEMBL), Q2TAB3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MELIQDTSRPPLEYVKGVPLIKYFAEALGPLQSFQARPDDLLINTYPKSGTTWVSQILDMIYQG GDLEKCNRAPIYVRVPFLEVNDPGEPSGLETLKDTPPPRLIKSHLPLALLPQTLLDQKVKVVYV ARNPKDVAVSYYHFHRMEKAHPEPGTWDSFLEKFMAGEVSYGSWYQHVQEWWELSRTHPVLYLF YEDMKENPKREIQKILEFVGRSLPEETMDFMVQHTSFKEMKKNPMTNYTTVPQELMDHSISPFM RKGMAGDWKTTFTVAQNERFDADYAEKMAGCSLSFRSEL hide sequence

RefSeq Acc Id:

ENSP00000455063 ⟸ ENST00000569544

RefSeq Acc Id:

ENSP00000353600 ⟸ ENST00000360423

RefSeq Acc Id:

ENSP00000457597 ⟸ ENST00000563944

RefSeq Acc Id:

ENSP00000456834 ⟸ ENST00000565290

Protein Domains

Sulfotransferase

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P0DMM9-F1-model_v2	AlphaFold	P0DMM9	1-295	view protein structure
AF-P0DMN0-F1-model_v2	AlphaFold	P0DMN0	1-295	view protein structure

Promoters

RGD ID:

7231793

Promoter ID:

EPDNEW_H21643

Type:

initiation region

Name:

SULT1A4_2

Description:

sulfotransferase family 1A member 4

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H21644 EPDNEW_H21645

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	29,457,954 - 29,458,014	EPDNEW

RGD ID:

7231795

Promoter ID:

EPDNEW_H21644

Type:

initiation region

Name:

SULT1A4_1

Description:

sulfotransferase family 1A member 4

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H21643 EPDNEW_H21645

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	29,459,885 - 29,459,945	EPDNEW

RGD ID:

7231797

Promoter ID:

EPDNEW_H21645

Type:

initiation region

Name:

SULT1A4_3

Description:

sulfotransferase family 1A member 4

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H21643 EPDNEW_H21644

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	29,461,437 - 29,461,497	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:30004	AgrOrtholog
COSMIC	SULT1A4	COSMIC
Ensembl Genes	ENSG00000213648	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000261052	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000338971.10	UniProtKB/Swiss-Prot
	ENST00000360423	ENTREZGENE
	ENST00000360423.12	UniProtKB/Swiss-Prot
	ENST00000395138.6	UniProtKB/Swiss-Prot
	ENST00000563322.5	UniProtKB/Swiss-Prot
	ENST00000563638.5	UniProtKB/TrEMBL
	ENST00000563944.1	UniProtKB/TrEMBL
	ENST00000565290	UniProtKB/TrEMBL
	ENST00000569544.5	UniProtKB/TrEMBL
Gene3D-CATH	3.40.50.300	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000213648	GTEx
	ENSG00000261052	GTEx
HGNC ID	HGNC:30004	ENTREZGENE
Human Proteome Map	SULT1A4	Human Proteome Map
InterPro	P-loop_NTPase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Sulfotransferase_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:445329	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	hsa:6818	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	445329	ENTREZGENE
OMIM	615819	OMIM
PANTHER	SULFOTRANSFERASE 1A3-RELATED	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SULFOTRANSFERASE SULT	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Sulfotransfer_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA142670856	PharmGKB, RGD
Superfamily-SCOP	SSF52540	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A0A6YYL2_HUMAN	UniProtKB/TrEMBL
	B3KT14	ENTREZGENE, UniProtKB/TrEMBL
	B4DNV0	ENTREZGENE
	H3BNY7_HUMAN	UniProtKB/TrEMBL
	H3BRT0_HUMAN	UniProtKB/TrEMBL
	O95603	ENTREZGENE
	P0DMM9	ENTREZGENE
	P0DMN0	ENTREZGENE
	P50224	ENTREZGENE
	Q1ET61	ENTREZGENE, UniProtKB/TrEMBL
	Q1ET62	ENTREZGENE, UniProtKB/TrEMBL
	Q1ET63	ENTREZGENE, UniProtKB/TrEMBL
	Q1ET66	ENTREZGENE
	Q2TAB3	ENTREZGENE, UniProtKB/TrEMBL
	Q6ZWJ5	ENTREZGENE
	ST1A3_HUMAN	UniProtKB/Swiss-Prot
	ST1A4_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	B4DNV0	UniProtKB/Swiss-Prot
	O95603	UniProtKB/Swiss-Prot
	P50224	UniProtKB/Swiss-Prot
	Q1ET66	UniProtKB/Swiss-Prot
	Q6ZWJ5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-10	SULT1A4	sulfotransferase family 1A member 4		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

RGD Manual Annotations

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

RGD Manual Annotations

Imported Human Phenotype Annotations - ClinVar