SULT1A4 (sulfotransferase family 1A member 4) - Rat Genome Database

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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
Description: Enables amine sulfotransferase activity; aryl sulfotransferase activity; and sulfate binding activity. Involved in several processes, including NMDA selective glutamate receptor signaling pathway; dopamine catabolic process; and intracellular signal transduction. Predicted to be located in cytosol. Predicted to be active in cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also 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 AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1629,459,913 - 29,464,966 (+)EnsemblGRCh38hg38GRCh38
GRCh381629,459,913 - 29,464,966 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371629,471,234 - 29,476,287 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361629,373,902 - 29,383,783 (+)NCBINCBI36hg18NCBI36
Cytogenetic Map16p11.2NCBI
CHM1_11630,483,036 - 30,488,130 (+)NCBICHM1_1
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
Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

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  


Genomics

Position Markers
RH80591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,215,374 - 30,215,622UniSTSGRCh37
GRCh371629,476,029 - 29,476,277UniSTSGRCh37
Build 361629,383,530 - 29,383,778RGDNCBI36
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map16pUniSTS
HuRef1627,878,012 - 27,878,260UniSTS
RH69023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,215,133 - 30,215,289UniSTSGRCh37
GRCh371629,475,788 - 29,475,944UniSTSGRCh37
Build 361629,383,289 - 29,383,445RGDNCBI36
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map16pUniSTS
HuRef1627,877,771 - 27,877,927UniSTS
RH92261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,215,827 - 30,216,011UniSTSGRCh37
GRCh371629,476,478 - 29,476,662UniSTSGRCh37
Build 361629,383,979 - 29,384,163RGDNCBI36
Cytogenetic Map16p11.2UniSTS
HuRef1627,878,465 - 27,878,649UniSTS
D16S3176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371628,608,874 - 28,609,025UniSTSGRCh37
Build 361628,516,375 - 28,516,526RGDNCBI36
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map16p11.2UniSTS
HuRef1626,634,484 - 26,634,635UniSTS
HuRef1627,871,916 - 27,872,408UniSTS
GDB:435498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,214,051 - 30,214,567UniSTSGRCh37
GRCh371629,474,706 - 29,475,222UniSTSGRCh37
Build 361629,382,207 - 29,382,723RGDNCBI36
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map16pUniSTS
HuRef1627,876,689 - 27,877,205UniSTS
GDB:453889  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,212,580 - 30,212,991UniSTSGRCh37
GRCh371629,473,237 - 29,473,647UniSTSGRCh37
Build 361629,380,738 - 29,381,148RGDNCBI36
Cytogenetic Map16p11.2UniSTS
HuRef1627,875,220 - 27,875,630UniSTS
GDB:626005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,212,402 - 30,212,570UniSTSGRCh37
GRCh371629,473,059 - 29,473,227UniSTSGRCh37
Build 361629,380,560 - 29,380,728RGDNCBI36
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map16pUniSTS
HuRef1627,875,042 - 27,875,210UniSTS
GDB:626032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,212,402 - 30,214,080UniSTSGRCh37
GRCh371629,473,059 - 29,474,735UniSTSGRCh37
Build 361629,380,560 - 29,382,236RGDNCBI36
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map16pUniSTS
HuRef1627,875,042 - 27,876,718UniSTS
RH133600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,208,358 - 30,208,798UniSTSGRCh37
GRCh371629,469,016 - 29,469,456UniSTSGRCh37
Build 361629,376,517 - 29,376,957RGDNCBI36
HuRef1627,870,997 - 27,871,437UniSTS
RH103211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,208,369 - 30,208,804UniSTSGRCh37
GRCh371629,469,027 - 29,469,462UniSTSGRCh37
Cytogenetic Map16p11.2UniSTS
HuRef1627,871,008 - 27,871,443UniSTS
GDB:574035  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16pUniSTS
Cytogenetic Map16p11.2UniSTS
GDB:579633  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map16p12.1UniSTS
GDB:594646  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map16p11.2UniSTS

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.


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 2 2
Low 2160 1758 1954 323 1240 152 2773 852 3149 91 1277 1933 171 1262 1698
Below cutoff 2258 4102 882 453 1114 300 5243 3324 3911 129 947 527 153 1141 3794

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
  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

Reference Sequences
RefSeq Acc Id: ENST00000360423   ⟹   ENSP00000353600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1629,459,913 - 29,464,966 (+)Ensembl
RefSeq Acc Id: ENST00000562941
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1629,461,729 - 29,463,955 (+)Ensembl
RefSeq Acc Id: ENST00000563944   ⟹   ENSP00000457597
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1629,461,725 - 29,464,687 (+)Ensembl
RefSeq Acc Id: ENST00000565290   ⟹   ENSP00000456834
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1629,461,386 - 29,464,575 (+)Ensembl
RefSeq Acc Id: ENST00000569544   ⟹   ENSP00000455063
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1629,461,382 - 29,464,326 (+)Ensembl
RefSeq Acc Id: NM_001017390   ⟹   NP_001017390
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,459,913 - 29,464,966 (+)NCBI
GRCh371629,471,207 - 29,476,301 (+)ENTREZGENE
Build 361629,378,695 - 29,383,783 (+)NCBI Archive
CHM1_11630,483,036 - 30,488,130 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001017390   ⟸   NM_001017390
- UniProtKB: P0DMN0 (UniProtKB/Swiss-Prot),   P0DMM9 (UniProtKB/Swiss-Prot),   Q1ET61 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000455063   ⟸   ENST00000569544
RefSeq Acc Id: ENSP00000353600   ⟸   ENST00000360423
RefSeq Acc Id: ENSP00000457597   ⟸   ENST00000563944
RefSeq Acc Id: ENSP00000456834   ⟸   ENST00000565290
Protein Domains
Sulfotransfer_1

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 AssemblyChrPosition (strand)Source
GRCh381629,457,954 - 29,458,014EPDNEW
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 AssemblyChrPosition (strand)Source
GRCh381629,459,885 - 29,459,945EPDNEW
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 AssemblyChrPosition (strand)Source
GRCh381629,461,437 - 29,461,497EPDNEW

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(chr16:28293803-29531653)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 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 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(chr16:29170820-30179247)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
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 Ductal breast carcinoma [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 Ductal breast carcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2
uncertain significance
Single allele 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 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 16p11.2(chr16:28486693-30197290)x1 copy number loss See cases [RCV000447001] Chr16:28486693..30197290 [GRCh37]
Chr16:16p11.2
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 16p11.2 deletion 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 Autistic disorder of childhood onset [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 16p11.2 deletion syndrome [RCV001250752] Chr16:29446604..30218886 [GRCh37]
Chr16:16p11.2
risk factor
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 16p11.2(chr16:29448001-30302100) copy number gain See cases [RCV001263033] Chr16:29448001..30302100 [GRCh37]
Chr16:16p11.2
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
GRCh37/hg19 16p11.2(chr16:29383808-30177240)x3 copy number gain not provided [RCV001258617] Chr16:29383808..30177240 [GRCh37]
Chr16:16p11.2
pathogenic
Single allele 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

Additional Information

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 Protein ENSP00000343645 UniProtKB/Swiss-Prot
  ENSP00000353600 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000378570 UniProtKB/Swiss-Prot
  ENSP00000454518 UniProtKB/Swiss-Prot
  ENSP00000455063 UniProtKB/TrEMBL
  ENSP00000456391 UniProtKB/TrEMBL
  ENSP00000456834 UniProtKB/TrEMBL
  ENSP00000457597 UniProtKB/TrEMBL
Ensembl Transcript ENST00000338971 UniProtKB/Swiss-Prot
  ENST00000360423 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000395138 UniProtKB/Swiss-Prot
  ENST00000563322 UniProtKB/Swiss-Prot
  ENST00000563638 UniProtKB/TrEMBL
  ENST00000563944 UniProtKB/TrEMBL
  ENST00000565290 UniProtKB/TrEMBL
  ENST00000569544 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
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
  H3BNY7_HUMAN UniProtKB/TrEMBL
  H3BRT0_HUMAN UniProtKB/TrEMBL
  P0DMM9 ENTREZGENE
  P0DMN0 ENTREZGENE
  Q1ET61 ENTREZGENE, UniProtKB/TrEMBL
  Q2TAB3_HUMAN UniProtKB/TrEMBL
  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