CHST8 (carbohydrate sulfotransferase 8) - Rat Genome Database

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Gene: CHST8 (carbohydrate sulfotransferase 8) Homo sapiens
Analyze
Symbol: CHST8
Name: carbohydrate sulfotransferase 8
RGD ID: 1319067
HGNC Page HGNC
Description: Enables N-acetylgalactosamine 4-O-sulfotransferase activity. Involved in hormone biosynthetic process; proteoglycan biosynthetic process; and sulfur compound metabolic process. Predicted to be located in Golgi membrane. Implicated in peeling skin syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8; GalNAc-4-O-sulfotransferase 1; GALNAC-4-ST1; GalNAc4ST; galNAc4ST-1; GALNAC4ST1; N-acetylgalactosamine-4-O-sulfotransferase 1; PSS3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1933,621,953 - 33,773,509 (+)EnsemblGRCh38hg38GRCh38
GRCh381933,621,953 - 33,773,509 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371934,112,859 - 34,264,414 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361938,867,274 - 38,956,254 (+)NCBINCBI36hg18NCBI36
Build 341938,867,273 - 38,956,253NCBI
Celera1930,806,474 - 30,958,041 (+)NCBI
Cytogenetic Map19q13.11NCBI
HuRef1930,612,378 - 30,763,394 (+)NCBIHuRef
CHM1_11934,114,228 - 34,265,711 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1433500   PMID:8419650   PMID:10988300   PMID:11001942   PMID:11445554   PMID:12477932   PMID:15489334   PMID:15632154   PMID:16079414   PMID:19079260   PMID:20379614   PMID:20816195  
PMID:21107309   PMID:21873635   PMID:22289416   PMID:23377640   PMID:26186194   PMID:28204496   PMID:28514442   PMID:32814053  


Genomics

Comparative Map Data
CHST8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1933,621,953 - 33,773,509 (+)EnsemblGRCh38hg38GRCh38
GRCh381933,621,953 - 33,773,509 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371934,112,859 - 34,264,414 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361938,867,274 - 38,956,254 (+)NCBINCBI36hg18NCBI36
Build 341938,867,273 - 38,956,253NCBI
Celera1930,806,474 - 30,958,041 (+)NCBI
Cytogenetic Map19q13.11NCBI
HuRef1930,612,378 - 30,763,394 (+)NCBIHuRef
CHM1_11934,114,228 - 34,265,711 (+)NCBICHM1_1
Chst8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39734,373,893 - 34,512,136 (-)NCBIGRCm39mm39
GRCm39 Ensembl734,373,893 - 34,512,136 (-)Ensembl
GRCm38734,674,468 - 34,812,711 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl734,674,468 - 34,812,711 (-)EnsemblGRCm38mm10GRCm38
MGSCv37735,459,487 - 35,597,730 (-)NCBIGRCm37mm9NCBIm37
MGSCv36734,383,519 - 34,521,436 (-)NCBImm8
Celera729,810,004 - 29,947,409 (-)NCBICelera
Cytogenetic Map7B2NCBI
Chst8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2187,294,144 - 87,435,900 (-)NCBImRatBN7.2
Rnor_6.0 Ensembl190,542,096 - 90,685,257 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0190,542,095 - 90,685,257 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0191,681,356 - 91,822,788 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4187,152,490 - 87,311,536 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1187,230,992 - 87,232,087 (-)NCBI
Celera181,658,173 - 81,797,008 (-)NCBICelera
Cytogenetic Map1q21NCBI
Chst8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554683,356,679 - 3,488,222 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554683,357,368 - 3,486,195 (+)NCBIChiLan1.0ChiLan1.0
CHST8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11939,338,488 - 39,445,592 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1939,354,974 - 39,445,592 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01930,549,667 - 30,705,452 (+)NCBIMhudiblu_PPA_v0panPan3
CHST8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11118,458,636 - 118,551,610 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1118,458,625 - 118,524,104 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1117,861,417 - 117,990,971 (-)NCBI
ROS_Cfam_1.01119,058,922 - 119,188,616 (-)NCBI
UMICH_Zoey_3.11118,619,785 - 118,749,190 (-)NCBI
UNSW_CanFamBas_1.01118,245,888 - 118,375,705 (-)NCBI
UU_Cfam_GSD_1.01119,304,573 - 119,434,387 (-)NCBI
Chst8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244093499,403,690 - 9,520,771 (+)NCBI
SpeTri2.0NW_0049365702,125,111 - 2,242,172 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHST8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl643,371,531 - 43,493,246 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1643,371,436 - 43,493,250 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CHST8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1628,657,639 - 28,808,906 (+)NCBI
ChlSab1.1 Ensembl628,722,901 - 28,808,904 (+)Ensembl
Vero_WHO_p1.0NW_0236660736,389,650 - 6,556,430 (+)NCBI
Chst8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247949,403,216 - 9,526,633 (-)NCBI

Position Markers
D19S213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371934,111,259 - 34,111,441UniSTSGRCh37
Build 361938,803,099 - 38,803,281RGDNCBI36
Celera1930,804,872 - 30,805,054RGD
Cytogenetic Map19q13.1UniSTS
HuRef1930,610,776 - 30,610,958UniSTS
Marshfield Genetic Map1959.36RGD
Marshfield Genetic Map1959.36UniSTS
Genethon Genetic Map1958.1UniSTS
Whitehead-YAC Contig Map19 UniSTS
RH123415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371934,228,657 - 34,228,972UniSTSGRCh37
Build 361938,920,497 - 38,920,812RGDNCBI36
Celera1930,922,262 - 30,922,577RGD
Cytogenetic Map19q13.1UniSTS
HuRef1930,728,222 - 30,728,537UniSTS
TNG Radiation Hybrid Map1912184.0UniSTS
SHGC-151083  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371934,111,402 - 34,111,607UniSTSGRCh37
Build 361938,803,242 - 38,803,447RGDNCBI36
Celera1930,805,015 - 30,805,220RGD
Cytogenetic Map19q13.1UniSTS
HuRef1930,610,919 - 30,611,124UniSTS
TNG Radiation Hybrid Map1912083.0UniSTS
TNG Radiation Hybrid Map1431299.0UniSTS
SHGC-152049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371934,111,310 - 34,111,607UniSTSGRCh37
Build 361938,803,150 - 38,803,447RGDNCBI36
Celera1930,804,923 - 30,805,220RGD
Cytogenetic Map19q13.1UniSTS
HuRef1930,610,827 - 30,611,124UniSTS
TNG Radiation Hybrid Map1533903.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1604
Count of miRNA genes:565
Interacting mature miRNAs:622
Transcripts:ENST00000262622, ENST00000434302, ENST00000438847, ENST00000591231, ENST00000604556
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 276 3 7 3 149 3 1162 8 25 1
Low 770 861 621 46 413 25 1529 374 2353 29 1071 728 27 1 655 1070 2
Below cutoff 1516 2065 660 443 897 306 2580 1760 183 206 293 721 140 547 1685 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB047801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF300612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF305781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI917117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX354555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB500322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262622   ⟹   ENSP00000262622
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1933,684,528 - 33,773,509 (+)Ensembl
RefSeq Acc Id: ENST00000434302   ⟹   ENSP00000392604
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1933,621,955 - 33,773,508 (+)Ensembl
RefSeq Acc Id: ENST00000438847   ⟹   ENSP00000393879
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1933,621,971 - 33,773,509 (+)Ensembl
RefSeq Acc Id: ENST00000591231   ⟹   ENSP00000467012
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1933,621,955 - 33,772,323 (+)Ensembl
RefSeq Acc Id: ENST00000604556
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1933,621,984 - 33,744,484 (+)Ensembl
RefSeq Acc Id: ENST00000650847   ⟹   ENSP00000499084
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1933,621,953 - 33,773,506 (+)Ensembl
RefSeq Acc Id: NM_001127895   ⟹   NP_001121367
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381933,621,953 - 33,773,506 (+)NCBI
GRCh371934,112,861 - 34,264,414 (+)RGD
Celera1930,806,474 - 30,958,041 (+)RGD
HuRef1930,612,378 - 30,763,394 (+)RGD
CHM1_11934,114,228 - 34,265,711 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001127896   ⟹   NP_001121368
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381933,621,953 - 33,773,506 (+)NCBI
GRCh371934,112,861 - 34,264,414 (+)RGD
Celera1930,806,474 - 30,958,041 (+)RGD
HuRef1930,612,378 - 30,763,394 (+)RGD
CHM1_11934,114,240 - 34,265,711 (+)NCBI
Sequence:
RefSeq Acc Id: NM_022467   ⟹   NP_071912
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381933,684,528 - 33,773,509 (+)NCBI
GRCh371934,112,861 - 34,264,414 (+)RGD
Build 361938,867,274 - 38,956,254 (+)NCBI Archive
Celera1930,806,474 - 30,958,041 (+)RGD
HuRef1930,612,378 - 30,763,394 (+)RGD
CHM1_11934,176,754 - 34,265,711 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527222   ⟹   XP_011525524
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381933,685,911 - 33,773,509 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527224   ⟹   XP_011525526
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381933,685,911 - 33,773,509 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027143   ⟹   XP_016882632
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381933,687,278 - 33,773,509 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001121367   ⟸   NM_001127895
- UniProtKB: Q9H2A9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001121368   ⟸   NM_001127896
- UniProtKB: Q9H2A9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_071912   ⟸   NM_022467
- UniProtKB: Q9H2A9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011525526   ⟸   XM_011527224
- Peptide Label: isoform X1
- UniProtKB: Q9H2A9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011525524   ⟸   XM_011527222
- Peptide Label: isoform X1
- UniProtKB: Q9H2A9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016882632   ⟸   XM_017027143
- Peptide Label: isoform X1
- UniProtKB: Q9H2A9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000393879   ⟸   ENST00000438847
RefSeq Acc Id: ENSP00000499084   ⟸   ENST00000650847
RefSeq Acc Id: ENSP00000262622   ⟸   ENST00000262622
RefSeq Acc Id: ENSP00000392604   ⟸   ENST00000434302
RefSeq Acc Id: ENSP00000467012   ⟸   ENST00000591231

Promoters
RGD ID:7239419
Promoter ID:EPDNEW_H25455
Type:initiation region
Name:CHST8_1
Description:carbohydrate sulfotransferase 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25456  EPDNEW_H25457  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381933,621,953 - 33,622,013EPDNEW
RGD ID:7239421
Promoter ID:EPDNEW_H25456
Type:single initiation site
Name:CHST8_2
Description:carbohydrate sulfotransferase 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25455  EPDNEW_H25457  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381933,677,547 - 33,677,607EPDNEW
RGD ID:7239423
Promoter ID:EPDNEW_H25457
Type:multiple initiation site
Name:CHST8_3
Description:carbohydrate sulfotransferase 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25455  EPDNEW_H25456  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381933,684,543 - 33,684,603EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001127895.1(CHST8):c.131-26178T>C single nucleotide variant Lung cancer [RCV000101234] Chr19:33745235 [GRCh38]
Chr19:34236140 [GRCh37]
Chr19:19q13.11
uncertain significance
NM_001127895.1(CHST8):c.131-15340G>A single nucleotide variant Lung cancer [RCV000101235] Chr19:33756073 [GRCh38]
Chr19:34246978 [GRCh37]
Chr19:19q13.11
uncertain significance
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 copy number gain See cases [RCV000050635] Chr19:17176767..34924150 [GRCh38]
Chr19:17287576..35415054 [GRCh37]
Chr19:17148576..40106894 [NCBI36]
Chr19:19p13.11-q13.11
pathogenic
NM_001127895.1(CHST8):c.895G>A (p.Ala299Thr) single nucleotide variant Malignant melanoma [RCV000072075] Chr19:33772683 [GRCh38]
Chr19:34263588 [GRCh37]
Chr19:38955428 [NCBI36]
Chr19:19q13.11
not provided
NM_001127895.1(CHST8):c.732C>T (p.Ile244=) single nucleotide variant Malignant melanoma [RCV000063504] Chr19:33772520 [GRCh38]
Chr19:34263425 [GRCh37]
Chr19:38955265 [NCBI36]
Chr19:19q13.11
not provided
NM_001127895.1(CHST8):c.1045G>C (p.Glu349Gln) single nucleotide variant Malignant melanoma [RCV000063505] Chr19:33772833 [GRCh38]
Chr19:34263738 [GRCh37]
Chr19:38955578 [NCBI36]
Chr19:19q13.11
not provided
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1 copy number loss See cases [RCV000135879] Chr19:29661858..38114723 [GRCh38]
Chr19:30152765..38605363 [GRCh37]
Chr19:34844605..43297203 [NCBI36]
Chr19:19q12-13.13
pathogenic
GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1 copy number loss See cases [RCV000136794] Chr19:29671324..37902990 [GRCh38]
Chr19:30162231..38393630 [GRCh37]
Chr19:34854071..43085470 [NCBI36]
Chr19:19q12-13.13
pathogenic
GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1 copy number loss See cases [RCV000141865] Chr19:31367353..35417098 [GRCh38]
Chr19:31858259..35908000 [GRCh37]
Chr19:36550099..40599840 [NCBI36]
Chr19:19q12-13.12
pathogenic
GRCh38/hg38 19q13.11(chr19:33738413-33998042)x1 copy number loss See cases [RCV000142711] Chr19:33738413..33998042 [GRCh38]
Chr19:34229318..34488947 [GRCh37]
Chr19:38921158..39180787 [NCBI36]
Chr19:19q13.11
uncertain significance
GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3 copy number gain See cases [RCV000143705] Chr19:27780238..34783942 [GRCh38]
Chr19:28271146..35274846 [GRCh37]
Chr19:32962986..39966686 [NCBI36]
Chr19:19q11-13.11
uncertain significance
NM_001127895.2(CHST8):c.229C>T (p.Arg77Trp) single nucleotide variant Peeling skin syndrome 3 [RCV000162277]|not provided [RCV000890550] Chr19:33772017 [GRCh38]
Chr19:34262922 [GRCh37]
Chr19:19q13.11
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 19q13.11(chr19:34112513-34113266)x1 copy number loss not provided [RCV000752658] Chr19:34112513..34113266 [GRCh37]
Chr19:19q13.11
benign
GRCh37/hg19 19q13.11(chr19:34112513-34117092)x1 copy number loss not provided [RCV000752659] Chr19:34112513..34117092 [GRCh37]
Chr19:19q13.11
benign
GRCh37/hg19 19q13.11(chr19:34210782-34232172)x3 copy number gain not provided [RCV000752660] Chr19:34210782..34232172 [GRCh37]
Chr19:19q13.11
benign
GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3 copy number gain See cases [RCV000448231] Chr19:30735448..36120396 [GRCh37]
Chr19:19q12-13.12
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19q13.11(chr19:33762256-34353184)x1 copy number loss See cases [RCV000512303] Chr19:33762256..34353184 [GRCh37]
Chr19:19q13.11
likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_001127895.2(CHST8):c.508AGC[4] (p.Ser172dup) microsatellite not provided [RCV000954772] Chr19:33772295..33772296 [GRCh38]
Chr19:34263200..34263201 [GRCh37]
Chr19:19q13.11
likely benign
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic
NM_001127895.2(CHST8):c.27G>A (p.Arg9=) single nucleotide variant not provided [RCV000954517] Chr19:33689288 [GRCh38]
Chr19:34180194 [GRCh37]
Chr19:19q13.11
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15993 AgrOrtholog
COSMIC CHST8 COSMIC
Ensembl Genes ENSG00000124302 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000262622 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000392604 UniProtKB/Swiss-Prot
  ENSP00000393879 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000467012 UniProtKB/TrEMBL
  ENSP00000499084 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000262622 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000434302 UniProtKB/Swiss-Prot
  ENST00000438847 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000591231 UniProtKB/TrEMBL
  ENST00000650847 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000124302 GTEx
HGNC ID HGNC:15993 ENTREZGENE
Human Proteome Map CHST8 Human Proteome Map
InterPro Carb_sulfotrans_8-10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sulfotransferase UniProtKB/Swiss-Prot
KEGG Report hsa:64377 UniProtKB/Swiss-Prot
NCBI Gene 64377 ENTREZGENE
OMIM 610190 OMIM
  616265 OMIM
PANTHER PTHR12137 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Sulfotransfer_2 UniProtKB/Swiss-Prot
PharmGKB PA26508 PharmGKB
UniProt CHST8_HUMAN UniProtKB/Swiss-Prot
  K7ENM3_HUMAN UniProtKB/TrEMBL
  Q9H2A9 ENTREZGENE
UniProt Secondary Q9H3N2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 CHST8  carbohydrate sulfotransferase 8    carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8  Symbol and/or name change 5135510 APPROVED
2011-09-01 CHST8  carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8  CHST8  carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8  Symbol and/or name change 5135510 APPROVED