CHST14 (carbohydrate sulfotransferase 14) - Rat Genome Database

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Gene: CHST14 (carbohydrate sulfotransferase 14) Homo sapiens
Analyze
Symbol: CHST14
Name: carbohydrate sulfotransferase 14
RGD ID: 1348543
HGNC Page HGNC
Description: Exhibits N-acetylgalactosamine 4-O-sulfotransferase activity. Involved in dermatan sulfate biosynthetic process. Localizes to extracellular exosome. Implicated in Ehlers-Danlos syndrome musculocontractural type 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATCS; carbohydrate (dermatan 4) sulfotransferase 14; carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14; D4ST-1; D4ST1; dermatan 4 sulfotransferase 1; EDSMC1; HD4ST; HNK1ST
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 Ensembl1540,470,984 - 40,473,158 (+)EnsemblGRCh38hg38GRCh38
GRCh381540,470,984 - 40,473,158 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371540,763,183 - 40,765,357 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361538,550,505 - 38,552,646 (+)NCBINCBI36hg18NCBI36
Build 341538,550,504 - 38,552,645NCBI
Celera1517,529,304 - 17,531,501 (+)NCBI
Cytogenetic Map15q15.1NCBI
HuRef1517,607,018 - 17,609,215 (+)NCBIHuRef
CHM1_11540,883,323 - 40,885,520 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal anterior chamber morphology  (IAGP)
Abnormal duodenum morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal heart valve morphology  (IAGP)
Abnormal sternum morphology  (IAGP)
Abnormality of mesentery morphology  (IAGP)
Abnormality of the mouth  (IAGP)
Adducted thumb  (IAGP)
Arachnodactyly  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Astigmatism  (IAGP)
Atlantoaxial dislocation  (IAGP)
Atrial septal defect  (IAGP)
Atrophic scars  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blue sclerae  (IAGP)
Brachycephaly  (IAGP)
Broad forehead  (IAGP)
Bruising susceptibility  (IAGP)
Cervical kyphosis  (IAGP)
Cleft lip  (IAGP)
Cleft palate  (IAGP)
Colon cancer  (IAGP)
Constipation  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Decreased muscle mass  (IAGP)
Decreased palmar creases  (IAGP)
Delayed cranial suture closure  (IAGP)
Delayed gross motor development  (IAGP)
Diastasis recti  (IAGP)
Disproportionate tall stature  (IAGP)
Distal arthrogryposis  (IAGP)
Downslanted palpebral fissures  (IAGP)
Ecchymosis  (IAGP)
External ear malformation  (IAGP)
Facial asymmetry  (IAGP)
Flat forehead  (IAGP)
Fragile skin  (IAGP)
Functional abnormality of the bladder  (IAGP)
Generalized hypotonia  (IAGP)
Generalized joint laxity  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hiatus hernia  (IAGP)
High palate  (IAGP)
Horseshoe kidney  (IAGP)
Hydronephrosis  (IAGP)
Hyperalgesia  (IAGP)
Hyperextensible skin  (IAGP)
Hypertelorism  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intestinal malrotation  (IAGP)
Joint dislocation  (IAGP)
Kyphoscoliosis  (IAGP)
Large fontanelles  (IAGP)
Long philtrum  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Macrotia  (IAGP)
Malrotation of small bowel  (IAGP)
Microcornea  (IAGP)
Microretrognathia  (IAGP)
Motor delay  (IAGP)
Muscle weakness  (IAGP)
Myopathy  (IAGP)
Myopia  (IAGP)
Narrow mouth  (IAGP)
Nephrolithiasis  (IAGP)
Nephrotic syndrome  (IAGP)
Ocular hypertension  (IAGP)
Pectus excavatum  (IAGP)
Pneumothorax  (IAGP)
Posteriorly rotated ears  (IAGP)
Prominent nasolabial fold  (IAGP)
Protruding ear  (IAGP)
Recurrent joint dislocation  (IAGP)
Recurrent skin infections  (IAGP)
Redundant skin  (IAGP)
Retinal detachment  (IAGP)
Scarring  (IAGP)
Scoliosis  (IAGP)
Short nose  (IAGP)
Slender finger  (IAGP)
Strabismus  (IAGP)
Talipes equinovarus  (IAGP)
Tapered finger  (IAGP)
Telecanthus  (IAGP)
Thin upper lip vermilion  (IAGP)
Umbilical hernia  (IAGP)
Ventriculomegaly  (IAGP)
References

Additional References at PubMed
PMID:11470797   PMID:12847091   PMID:12975309   PMID:14702039   PMID:15489334   PMID:16303743   PMID:17207965   PMID:18976975   PMID:19199708   PMID:19661164   PMID:20004762   PMID:20533528  
PMID:20842734   PMID:21309034   PMID:21873635   PMID:22581468   PMID:26186194   PMID:26373698   PMID:26646600   PMID:28238810   PMID:28514442   PMID:29976758   PMID:30195269   PMID:31073040  
PMID:32130795   PMID:33845483  


Genomics

Comparative Map Data
CHST14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1540,470,984 - 40,473,158 (+)EnsemblGRCh38hg38GRCh38
GRCh381540,470,984 - 40,473,158 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371540,763,183 - 40,765,357 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361538,550,505 - 38,552,646 (+)NCBINCBI36hg18NCBI36
Build 341538,550,504 - 38,552,645NCBI
Celera1517,529,304 - 17,531,501 (+)NCBI
Cytogenetic Map15q15.1NCBI
HuRef1517,607,018 - 17,609,215 (+)NCBIHuRef
CHM1_11540,883,323 - 40,885,520 (+)NCBICHM1_1
Chst14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392118,756,978 - 118,759,066 (+)NCBIGRCm39mm39
GRCm39 Ensembl2118,756,977 - 118,759,066 (+)Ensembl
GRCm382118,926,497 - 118,928,585 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2118,926,496 - 118,928,585 (+)EnsemblGRCm38mm10GRCm38
MGSCv372118,752,233 - 118,754,321 (+)NCBIGRCm37mm9NCBIm37
MGSCv362118,617,965 - 118,620,026 (+)NCBImm8
Celera2120,078,074 - 120,080,162 (+)NCBICelera
Cytogenetic Map2E5NCBI
Chst14
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23105,916,481 - 105,918,538 (+)NCBI
Rnor_6.0 Ensembl3110,734,105 - 110,736,162 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.03110,734,105 - 110,736,162 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.03117,272,042 - 117,274,099 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43105,439,600 - 105,441,657 (+)NCBIRGSC3.4rn4RGSC3.4
Celera3104,829,671 - 104,831,728 (+)NCBICelera
Cytogenetic Map3q35NCBI
Chst14
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554167,391,282 - 7,392,355 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554167,391,281 - 7,393,137 (+)NCBIChiLan1.0ChiLan1.0
CHST14
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11537,660,619 - 37,662,436 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1537,660,621 - 37,661,622 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01519,407,477 - 19,409,645 (+)NCBIMhudiblu_PPA_v0panPan3
CHST14
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1307,640,988 - 7,643,576 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl307,640,637 - 7,642,778 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha307,695,395 - 7,697,327 (+)NCBI
ROS_Cfam_1.0307,767,476 - 7,769,408 (+)NCBI
UMICH_Zoey_3.1307,691,749 - 7,693,681 (+)NCBI
UNSW_CanFamBas_1.0307,797,791 - 7,799,723 (+)NCBI
UU_Cfam_GSD_1.0307,926,684 - 7,928,616 (+)NCBI
Chst14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864086,079,826 - 86,084,278 (+)NCBI
SpeTri2.0NW_0049364713,930,167 - 3,932,356 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHST14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11130,845,103 - 130,847,203 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21145,930,319 - 145,932,401 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CHST14
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12642,538,380 - 42,540,588 (-)NCBI
ChlSab1.1 Ensembl2642,539,203 - 42,540,333 (-)Ensembl
Vero_WHO_p1.0NW_02366604898,429,750 - 98,431,975 (+)NCBI
Chst14
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248047,769,254 - 7,771,368 (+)NCBI

Position Markers
RH91091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371540,765,069 - 40,765,218UniSTSGRCh37
Build 361538,552,361 - 38,552,510RGDNCBI36
Celera1517,531,213 - 17,531,362RGD
Cytogenetic Map15q15.1UniSTS
HuRef1517,608,927 - 17,609,076UniSTS
GeneMap99-GB4 RH Map15128.22UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:853
Count of miRNA genes:368
Interacting mature miRNAs:389
Transcripts:ENST00000306243, ENST00000559991
Prediction methods: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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1612 1400 1121 183 949 109 2606 878 1033 302 1264 1509 89 1 1037 1531 5
Low 825 1566 605 441 976 356 1751 1319 2701 117 196 104 86 167 1257 1 2
Below cutoff 2 25 26

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000306243   ⟹   ENSP00000307297
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1540,470,984 - 40,473,158 (+)Ensembl
RefSeq Acc Id: ENST00000559991   ⟹   ENSP00000453882
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1540,471,086 - 40,473,128 (+)Ensembl
RefSeq Acc Id: NM_130468   ⟹   NP_569735
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,470,984 - 40,473,158 (+)NCBI
GRCh371540,763,160 - 40,765,357 (+)ENTREZGENE
Build 361538,550,505 - 38,552,646 (+)NCBI Archive
HuRef1517,607,018 - 17,609,215 (+)ENTREZGENE
CHM1_11540,883,323 - 40,885,520 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_569735   ⟸   NM_130468
- UniProtKB: Q8NCH0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000307297   ⟸   ENST00000306243
RefSeq Acc Id: ENSP00000453882   ⟸   ENST00000559991

Promoters
RGD ID:6792175
Promoter ID:HG_KWN:21047
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_130468,   OTTHUMT00000252251
Position:
Human AssemblyChrPosition (strand)Source
Build 361538,549,666 - 38,551,247 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_130468.3(CHST14):c.468G>C (p.Lys156Asn) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV000550037] Chr15:40471681 [GRCh38]
Chr15:40763880 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.3(CHST14):c.439T>C (p.Tyr147His) single nucleotide variant not provided [RCV000521235] Chr15:40471652 [GRCh38]
Chr15:40763851 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.3(CHST14):c.981_1000dup (p.Glu334fs) duplication Ehlers-Danlos syndrome, musculocontractural type 1 [RCV000002433] Chr15:40472192..40472193 [GRCh38]
Chr15:40764391..40764392 [GRCh37]
Chr15:15q15.1
pathogenic
NM_130468.3(CHST14):c.1036G>C (p.Ala346Pro) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001040123]|not provided [RCV000521430] Chr15:40472249 [GRCh38]
Chr15:40764448 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.3(CHST14):c.145del (p.Ala48_Val49insTer) deletion Ehlers-Danlos syndrome, musculocontractural type 1 [RCV001290022]|Ehlers-Danlos syndrome, musculocontractural type [RCV000002426]|not provided [RCV000726014] Chr15:40471357 [GRCh38]
Chr15:40763556 [GRCh37]
Chr15:15q15.1
pathogenic|uncertain significance
NM_130468.3(CHST14):c.638G>C (p.Arg213Pro) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 1 [RCV001290021]|Ehlers-Danlos syndrome, musculocontractural type [RCV000002427] Chr15:40471851 [GRCh38]
Chr15:40764050 [GRCh37]
Chr15:15q15.1
pathogenic|not provided
NM_130468.3(CHST14):c.878A>G (p.Tyr293Cys) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 1 [RCV001290020]|Ehlers-Danlos syndrome, musculocontractural type [RCV000002429]|not provided [RCV000523135] Chr15:40472091 [GRCh38]
Chr15:40764290 [GRCh37]
Chr15:15q15.1
pathogenic|likely pathogenic|not provided
NM_130468.3(CHST14):c.842C>T (p.Pro281Leu) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 1 [RCV001290019]|Ehlers-Danlos syndrome, musculocontractural type [RCV000002430] Chr15:40472055 [GRCh38]
Chr15:40764254 [GRCh37]
Chr15:15q15.1
pathogenic
NM_130468.3(CHST14):c.205A>T (p.Lys69Ter) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 1 [RCV000002431] Chr15:40471418 [GRCh38]
Chr15:40763617 [GRCh37]
Chr15:15q15.1
pathogenic
NM_130468.3(CHST14):c.866G>C (p.Cys289Ser) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 1 [RCV000002432] Chr15:40472079 [GRCh38]
Chr15:40764278 [GRCh37]
Chr15:15q15.1
pathogenic
NM_130468.3(CHST14):c.821G>C (p.Arg274Pro) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 1 [RCV000043688] Chr15:40472034 [GRCh38]
Chr15:40764233 [GRCh37]
Chr15:15q15.1
pathogenic
GRCh38/hg38 15q14-15.1(chr15:36531993-40787538)x3 copy number gain See cases [RCV000052341] Chr15:36531993..40787538 [GRCh38]
Chr15:36824194..41079736 [GRCh37]
Chr15:34611486..38867028 [NCBI36]
Chr15:15q14-15.1
pathogenic
NM_130468.3(CHST14):c.567del (p.Phe190fs) deletion not provided [RCV000173556] Chr15:40471780 [GRCh38]
Chr15:40763979 [GRCh37]
Chr15:15q15.1
pathogenic
NM_130468.4(CHST14):c.*6G>A single nucleotide variant not specified [RCV000116742] Chr15:40472350 [GRCh38]
Chr15:40764549 [GRCh37]
Chr15:15q15.1
benign
NM_130468.3(CHST14):c.491G>A (p.Arg164Gln) single nucleotide variant not provided [RCV000173555] Chr15:40471704 [GRCh38]
Chr15:40763903 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.3(CHST14):c.288G>A (p.Arg96=) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV000875090]|not specified [RCV000193592] Chr15:40471501 [GRCh38]
Chr15:40763700 [GRCh37]
Chr15:15q15.1
benign|likely benign
NM_130468.3(CHST14):c.807T>C (p.Asp269=) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001087570]|not provided [RCV000725980]|not specified [RCV000250602] Chr15:40472020 [GRCh38]
Chr15:40764219 [GRCh37]
Chr15:15q15.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_130468.3(CHST14):c.946C>T (p.Pro316Ser) single nucleotide variant not provided [RCV000339432] Chr15:40472159 [GRCh38]
Chr15:40764358 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.3(CHST14):c.74C>A (p.Ala25Asp) single nucleotide variant not provided [RCV000293203] Chr15:40471287 [GRCh38]
Chr15:40763486 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.3(CHST14):c.143C>T (p.Ala48Val) single nucleotide variant not provided [RCV000724922] Chr15:40471356 [GRCh38]
Chr15:40763555 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.3(CHST14):c.941G>A (p.Arg314Gln) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001270131]|not provided [RCV000268389] Chr15:40472154 [GRCh38]
Chr15:40764353 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.3(CHST14):c.224C>A (p.Pro75Gln) single nucleotide variant not provided [RCV000489421] Chr15:40471437 [GRCh38]
Chr15:40763636 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.3(CHST14):c.796T>C (p.Tyr266His) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001345233]|not provided [RCV000592222] Chr15:40472009 [GRCh38]
Chr15:40764208 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.3(CHST14):c.846G>C (p.Val282=) single nucleotide variant not specified [RCV000604251] Chr15:40472059 [GRCh38]
Chr15:40764258 [GRCh37]
Chr15:15q15.1
likely benign
NM_130468.3(CHST14):c.125C>G (p.Pro42Arg) single nucleotide variant not provided [RCV000728610] Chr15:40471338 [GRCh38]
Chr15:40763537 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.3(CHST14):c.148A>T (p.Ile50Phe) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV000538819] Chr15:40471361 [GRCh38]
Chr15:40763560 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.3(CHST14):c.239G>A (p.Gly80Asp) single nucleotide variant not provided [RCV000733924] Chr15:40471452 [GRCh38]
Chr15:40763651 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.3(CHST14):c.635T>C (p.Val212Ala) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001086290]|not provided [RCV000585577]|not specified [RCV000414071] Chr15:40471848 [GRCh38]
Chr15:40764047 [GRCh37]
Chr15:15q15.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_130468.3(CHST14):c.-5G>A single nucleotide variant not specified [RCV000427855] Chr15:40471209 [GRCh38]
Chr15:40763408 [GRCh37]
Chr15:15q15.1
likely benign
NM_130468.3(CHST14):c.891C>G (p.Gly297=) single nucleotide variant not specified [RCV000432267] Chr15:40472104 [GRCh38]
Chr15:40764303 [GRCh37]
Chr15:15q15.1
likely benign
NM_130468.3(CHST14):c.310G>A (p.Val104Met) single nucleotide variant not provided [RCV000436750] Chr15:40471523 [GRCh38]
Chr15:40763722 [GRCh37]
Chr15:15q15.1
uncertain significance
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
NM_130468.3(CHST14):c.755_851del (p.Ser252fs) deletion not provided [RCV000479682] Chr15:40471965..40472061 [GRCh38]
Chr15:40764164..40764260 [GRCh37]
Chr15:15q15.1
likely pathogenic
NM_130468.3(CHST14):c.1033C>T (p.Arg345Trp) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV000509210]|not provided [RCV000519446] Chr15:40472246 [GRCh38]
Chr15:40764445 [GRCh37]
Chr15:15q15.1
uncertain significance|not provided
NM_130468.3(CHST14):c.784G>A (p.Glu262Lys) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV000500082] Chr15:40471997 [GRCh38]
Chr15:40764196 [GRCh37]
Chr15:15q15.1
likely pathogenic
NM_130468.3(CHST14):c.958C>T (p.Arg320Ter) single nucleotide variant not provided [RCV000498443] Chr15:40472171 [GRCh38]
Chr15:40764370 [GRCh37]
Chr15:15q15.1
likely 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_130468.3(CHST14):c.849C>T (p.Tyr283=) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV000644874] Chr15:40472062 [GRCh38]
Chr15:40764261 [GRCh37]
Chr15:15q15.1
likely benign
NM_130468.3(CHST14):c.198C>G (p.Ala66=) single nucleotide variant not provided [RCV000595222] Chr15:40471411 [GRCh38]
Chr15:40763610 [GRCh37]
Chr15:15q15.1
uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
NM_130468.3(CHST14):c.398A>C (p.Gln133Pro) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001300844]|not provided [RCV000598134] Chr15:40471611 [GRCh38]
Chr15:40763810 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.3(CHST14):c.453dup (p.Cys152fs) duplication Ehlers-Danlos syndrome, musculocontractural type 1 [RCV000515454] Chr15:40471665..40471666 [GRCh38]
Chr15:40763864..40763865 [GRCh37]
Chr15:15q15.1
pathogenic
NM_130468.3(CHST14):c.582G>A (p.Leu194=) single nucleotide variant not specified [RCV000605759] Chr15:40471795 [GRCh38]
Chr15:40763994 [GRCh37]
Chr15:15q15.1
likely benign
NM_130468.3(CHST14):c.-27C>G single nucleotide variant not specified [RCV000611748] Chr15:40471187 [GRCh38]
Chr15:40763386 [GRCh37]
Chr15:15q15.1
likely benign
NM_130468.3(CHST14):c.471G>A (p.Val157=) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV000644873] Chr15:40471684 [GRCh38]
Chr15:40763883 [GRCh37]
Chr15:15q15.1
likely benign
NM_130468.3(CHST14):c.275G>T (p.Gly92Val) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV000644872] Chr15:40471488 [GRCh38]
Chr15:40763687 [GRCh37]
Chr15:15q15.1
uncertain significance
GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant complex Spindle cell sarcoma [RCV000714282] Chr15:34640169..42054561 [GRCh37]
Chr15:15q14-15.1
pathogenic
GRCh37/hg19 15q14-15.1(chr15:38170429-40775075)x1 copy number loss not provided [RCV000683683] Chr15:38170429..40775075 [GRCh37]
Chr15:15q14-15.1
pathogenic
NM_130468.3(CHST14):c.130A>G (p.Met44Val) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV000702375] Chr15:40471343 [GRCh38]
Chr15:40763542 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.3(CHST14):c.1081C>G (p.Leu361Val) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV000702273] Chr15:40472294 [GRCh38]
Chr15:40764493 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.3(CHST14):c.869C>T (p.Ala290Val) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV000702600] Chr15:40472082 [GRCh38]
Chr15:40764281 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.3(CHST14):c.160dup (p.Ser54fs) duplication Ehlers-Danlos syndrome, musculocontractural type [RCV000697604] Chr15:40471372..40471373 [GRCh38]
Chr15:40763571..40763572 [GRCh37]
Chr15:15q15.1
likely 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
NM_130468.4(CHST14):c.252C>T (p.Arg84=) single nucleotide variant not provided [RCV000882325] Chr15:40471465 [GRCh38]
Chr15:40763664 [GRCh37]
Chr15:15q15.1
likely benign
NM_130468.4(CHST14):c.567G>A (p.Val189=) single nucleotide variant not provided [RCV000885236] Chr15:40471780 [GRCh38]
Chr15:40763979 [GRCh37]
Chr15:15q15.1
benign
NM_130468.4(CHST14):c.765C>T (p.Gly255=) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV000900589] Chr15:40471978 [GRCh38]
Chr15:40764177 [GRCh37]
Chr15:15q15.1
likely benign
NM_130468.4(CHST14):c.507G>T (p.Leu169=) single nucleotide variant not provided [RCV000923419] Chr15:40471720 [GRCh38]
Chr15:40763919 [GRCh37]
Chr15:15q15.1
likely benign
NM_130468.4(CHST14):c.183G>A (p.Glu61=) single nucleotide variant not provided [RCV000928918] Chr15:40471396 [GRCh38]
Chr15:40763595 [GRCh37]
Chr15:15q15.1
likely benign
NM_130468.4(CHST14):c.870C>T (p.Ala290=) single nucleotide variant not provided [RCV000922494] Chr15:40472083 [GRCh38]
Chr15:40764282 [GRCh37]
Chr15:15q15.1
likely benign
NM_130468.4(CHST14):c.771T>C (p.Asp257=) single nucleotide variant not provided [RCV000922313] Chr15:40471984 [GRCh38]
Chr15:40764183 [GRCh37]
Chr15:15q15.1
likely benign
NM_130468.4(CHST14):c.447C>T (p.Phe149=) single nucleotide variant not provided [RCV000882120] Chr15:40471660 [GRCh38]
Chr15:40763859 [GRCh37]
Chr15:15q15.1
likely benign
NM_130468.4(CHST14):c.275del (p.Gly92fs) deletion not provided [RCV000995294] Chr15:40471484 [GRCh38]
Chr15:40763683 [GRCh37]
Chr15:15q15.1
likely pathogenic
NM_130468.4(CHST14):c.217C>T (p.Leu73=) single nucleotide variant not provided [RCV000876355] Chr15:40471430 [GRCh38]
Chr15:40763629 [GRCh37]
Chr15:15q15.1
likely benign
NM_130468.4(CHST14):c.115C>T (p.Leu39=) single nucleotide variant not provided [RCV000939572] Chr15:40471328 [GRCh38]
Chr15:40763527 [GRCh37]
Chr15:15q15.1
likely benign
NM_130468.4(CHST14):c.174C>T (p.Leu58=) single nucleotide variant not provided [RCV000922895] Chr15:40471387 [GRCh38]
Chr15:40763586 [GRCh37]
Chr15:15q15.1
likely benign
NM_130468.3(CHST14):c.548A>G (p.Asp183Gly) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV000805999] Chr15:40471761 [GRCh38]
Chr15:40763960 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.3(CHST14):c.-534A>G single nucleotide variant not provided [RCV000832175] Chr15:40470680 [GRCh38]
Chr15:40762879 [GRCh37]
Chr15:15q15.1
likely benign
NM_130468.3(CHST14):c.250C>A (p.Arg84Ser) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV000821220] Chr15:40471463 [GRCh38]
Chr15:40763662 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.3(CHST14):c.158C>A (p.Ser53Tyr) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV000795032] Chr15:40471371 [GRCh38]
Chr15:40763570 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.3(CHST14):c.77C>T (p.Pro26Leu) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV000812575] Chr15:40471290 [GRCh38]
Chr15:40763489 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.4(CHST14):c.729G>T (p.Arg243Ser) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001068319] Chr15:40471942 [GRCh38]
Chr15:40764141 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.4(CHST14):c.743G>C (p.Gly248Ala) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001065094] Chr15:40471956 [GRCh38]
Chr15:40764155 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.3(CHST14):c.527_530delinsGACAG (p.Val176fs) indel Ehlers-Danlos syndrome, musculocontractural type [RCV000809237]|not provided [RCV001009235] Chr15:40471740..40471743 [GRCh38]
Chr15:40763939..40763942 [GRCh37]
Chr15:15q15.1
pathogenic|likely pathogenic
NM_130468.3(CHST14):c.-571T>C single nucleotide variant not provided [RCV000843480] Chr15:40470643 [GRCh38]
Chr15:40762842 [GRCh37]
Chr15:15q15.1
benign
NM_130468.4(CHST14):c.400C>T (p.Arg134Trp) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001043081] Chr15:40471613 [GRCh38]
Chr15:40763812 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.4(CHST14):c.668A>T (p.Tyr223Phe) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001236638] Chr15:40471881 [GRCh38]
Chr15:40764080 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.4(CHST14):c.196G>A (p.Ala66Thr) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001241830] Chr15:40471409 [GRCh38]
Chr15:40763608 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.4(CHST14):c.685G>A (p.Glu229Lys) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001208047] Chr15:40471898 [GRCh38]
Chr15:40764097 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.4(CHST14):c.750G>T (p.Gly250=) single nucleotide variant not provided [RCV000979034] Chr15:40471963 [GRCh38]
Chr15:40764162 [GRCh37]
Chr15:15q15.1
likely benign
NM_130468.4(CHST14):c.537C>T (p.Arg179=) single nucleotide variant not provided [RCV000927244] Chr15:40471750 [GRCh38]
Chr15:40763949 [GRCh37]
Chr15:15q15.1
likely benign
NM_130468.4(CHST14):c.315G>A (p.Arg105=) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV000952129] Chr15:40471528 [GRCh38]
Chr15:40763727 [GRCh37]
Chr15:15q15.1
likely benign
NM_130468.4(CHST14):c.1104T>C (p.Asn368=) single nucleotide variant not provided [RCV000979360] Chr15:40472317 [GRCh38]
Chr15:40764516 [GRCh37]
Chr15:15q15.1
likely benign
NM_130468.4(CHST14):c.151G>C (p.Val51Leu) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV000871929] Chr15:40471364 [GRCh38]
Chr15:40763563 [GRCh37]
Chr15:15q15.1
likely benign
NM_130468.4(CHST14):c.1119G>A (p.Ala373=) single nucleotide variant not provided [RCV000908827] Chr15:40472332 [GRCh38]
Chr15:40764531 [GRCh37]
Chr15:15q15.1
likely benign
NM_130468.4(CHST14):c.1010A>G (p.His337Arg) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001245337] Chr15:40472223 [GRCh38]
Chr15:40764422 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.4(CHST14):c.436C>G (p.Arg146Gly) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001027985] Chr15:40471649 [GRCh38]
Chr15:40763848 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.4(CHST14):c.797dup (p.Tyr266Ter) duplication Ehlers-Danlos syndrome, musculocontractural type [RCV001007706] Chr15:40472009..40472010 [GRCh38]
Chr15:40764208..40764209 [GRCh37]
Chr15:15q15.1
pathogenic
NM_130468.4(CHST14):c.628C>G (p.Leu210Val) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001068767] Chr15:40471841 [GRCh38]
Chr15:40764040 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.4(CHST14):c.507_508delinsTT (p.Ala170Ser) indel Ehlers-Danlos syndrome, musculocontractural type [RCV001213745] Chr15:40471720..40471721 [GRCh38]
Chr15:40763919..40763920 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.4(CHST14):c.138G>C (p.Met46Ile) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001246257] Chr15:40471351 [GRCh38]
Chr15:40763550 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.4(CHST14):c.458A>G (p.Tyr153Cys) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001262383] Chr15:40471671 [GRCh38]
Chr15:40763870 [GRCh37]
Chr15:15q15.1
uncertain significance
GRCh37/hg19 15q15.1(chr15:40464942-41196807)x4 copy number gain not provided [RCV001259208] Chr15:40464942..41196807 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.4(CHST14):c.687G>C (p.Glu229Asp) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001312967] Chr15:40471900 [GRCh38]
Chr15:40764099 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.4(CHST14):c.1120_*12del (p.Cys374_Ter377del) deletion not provided [RCV001310744] Chr15:40472332..40472355 [GRCh38]
Chr15:40764531..40764554 [GRCh37]
Chr15:15q15.1
uncertain significance
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
NM_130468.4(CHST14):c.11G>C (p.Arg4Pro) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001301093] Chr15:40471224 [GRCh38]
Chr15:40763423 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.4(CHST14):c.612G>T (p.Gln204His) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001350771] Chr15:40471825 [GRCh38]
Chr15:40764024 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.4(CHST14):c.173T>C (p.Leu58Pro) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001317195] Chr15:40471386 [GRCh38]
Chr15:40763585 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.4(CHST14):c.592G>A (p.Glu198Lys) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001326746] Chr15:40471805 [GRCh38]
Chr15:40764004 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.4(CHST14):c.637C>T (p.Arg213Trp) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 1 [RCV001329615] Chr15:40471850 [GRCh38]
Chr15:40764049 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.4(CHST14):c.295G>A (p.Asp99Asn) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001346009] Chr15:40471508 [GRCh38]
Chr15:40763707 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.4(CHST14):c.283C>T (p.Leu95Phe) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001374172] Chr15:40471496 [GRCh38]
Chr15:40763695 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.4(CHST14):c.32C>T (p.Ala11Val) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type [RCV001349731] Chr15:40471245 [GRCh38]
Chr15:40763444 [GRCh37]
Chr15:15q15.1
uncertain significance
NM_130468.4(CHST14):c.61G>A (p.Ala21Thr) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 1 [RCV001334470] Chr15:40471274 [GRCh38]
Chr15:40763473 [GRCh37]
Chr15:15q15.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24464 AgrOrtholog
COSMIC CHST14 COSMIC
Ensembl Genes ENSG00000169105 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000307297 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000453882 UniProtKB/TrEMBL
Ensembl Transcript ENST00000306243 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000559991 UniProtKB/TrEMBL
GTEx ENSG00000169105 GTEx
HGNC ID HGNC:24464 ENTREZGENE
Human Proteome Map CHST14 Human Proteome Map
InterPro Carb_sulfotrans_8-10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sulfotransferase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:113189 UniProtKB/Swiss-Prot
NCBI Gene 113189 ENTREZGENE
OMIM 601776 OMIM
  608429 OMIM
PANTHER PTHR12137 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Sulfotransfer_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162382258 PharmGKB
UniProt CHSTE_HUMAN UniProtKB/Swiss-Prot
  H0YN65_HUMAN UniProtKB/TrEMBL
  Q8NCH0 ENTREZGENE
UniProt Secondary Q6PJ31 UniProtKB/Swiss-Prot
  Q6UXA0 UniProtKB/Swiss-Prot
  Q96P94 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-17 CHST14  carbohydrate sulfotransferase 14    carbohydrate (dermatan 4) sulfotransferase 14  Symbol and/or name change 5135510 APPROVED
2016-03-28 CHST14  carbohydrate (dermatan 4) sulfotransferase 14    carbohydrate sulfotransferase 14  Symbol and/or name change 5135510 APPROVED
2016-02-10 CHST14  carbohydrate sulfotransferase 14    carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14  Symbol and/or name change 5135510 APPROVED