HS6ST1 (heparan sulfate 6-O-sulfotransferase 1) - Rat Genome Database

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Gene: HS6ST1 (heparan sulfate 6-O-sulfotransferase 1) Homo sapiens
Analyze
Symbol: HS6ST1
Name: heparan sulfate 6-O-sulfotransferase 1
RGD ID: 1319437
HGNC Page HGNC
Description: Predicted to enable heparan sulfate 6-O-sulfotransferase activity. Involved in neuron development. Predicted to be located in Golgi membrane. Predicted to be integral component of plasma membrane. Implicated in hypogonadotropic hypogonadism 15 with or without anosmia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp547H098; FLJ25392; heparan-sulfate 6-O-sulfotransferase 1; heparan-sulfate 6-sulfotransferase; HH15; HS6ST; HS6ST-1; MGC116899; MGC116901
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: HS6ST1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2128,236,716 - 128,318,868 (-)EnsemblGRCh38hg38GRCh38
GRCh382128,265,480 - 128,318,868 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372129,023,054 - 129,076,442 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362128,739,524 - 128,792,641 (-)NCBINCBI36hg18NCBI36
Build 342128,741,261 - 128,792,482NCBI
Celera2122,329,574 - 122,382,723 (-)NCBI
Cytogenetic Map2q14.3NCBI
HuRef2121,328,848 - 121,381,981 (-)NCBIHuRef
CHM1_12129,027,954 - 129,081,083 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal morphology of female internal genitalia  (IAGP)
Abnormality of body height  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the voice  (IAGP)
Absence of pubertal development  (IAGP)
Absence of secondary sex characteristics  (IAGP)
Anosmia  (IAGP)
Anterior hypopituitarism  (IAGP)
Anxiety  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bimanual synkinesia  (IAGP)
Breast hypoplasia  (IAGP)
Camptodactyly  (IAGP)
Cleft palate  (IAGP)
Color vision defect  (IAGP)
Congenital sensorineural hearing impairment  (IAGP)
Cryptorchidism  (IAGP)
Decreased fertility  (IAGP)
Decreased serum testosterone concentration  (IAGP)
Decreased testicular size  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (IAGP)
Depression  (IAGP)
Dysarthria  (IAGP)
Dyspareunia  (IAGP)
Erectile dysfunction  (IAGP)
Eunuchoid habitus  (IAGP)
Female hypogonadism  (IAGP)
Gait disturbance  (IAGP)
Generalized joint laxity  (IAGP)
Genu valgum  (IAGP)
Gynecomastia  (IAGP)
Hypertelorism  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoplasia of the ovary  (IAGP)
Hypoplasia of the uterus  (IAGP)
Hyposmia  (IAGP)
Hypothalamic gonadotropin-releasing hormone deficiency  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Impotence  (IAGP)
Increased female libido  (IAGP)
Male hypogonadism  (IAGP)
Micropenis  (IAGP)
Muscle weakness  (IAGP)
Non-obstructive azoospermia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Paraplegia  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Primary amenorrhea  (IAGP)
Ptosis  (IAGP)
Recurrent fractures  (IAGP)
Reduced bone mineral density  (IAGP)
Renal agenesis  (IAGP)
Secondary amenorrhea  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Skeletal dysplasia  (IAGP)
Small pituitary gland  (IAGP)
Sparse body hair  (IAGP)
Tooth agenesis  (IAGP)
Tremor  (IAGP)
Visual impairment  (IAGP)
Wide intermamillary distance  (IAGP)
References

Additional References at PubMed
PMID:9535912   PMID:12477932   PMID:12492399   PMID:15342556   PMID:15489334   PMID:15815621   PMID:20301509   PMID:20379614   PMID:21700882   PMID:21873635   PMID:23362303   PMID:24501377  
PMID:24563483   PMID:26186194   PMID:28298427   PMID:28514442   PMID:29104277   PMID:29117863   PMID:29507755   PMID:29931354   PMID:32296183   PMID:32457219  


Genomics

Comparative Map Data
HS6ST1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2128,236,716 - 128,318,868 (-)EnsemblGRCh38hg38GRCh38
GRCh382128,265,480 - 128,318,868 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372129,023,054 - 129,076,442 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362128,739,524 - 128,792,641 (-)NCBINCBI36hg18NCBI36
Build 342128,741,261 - 128,792,482NCBI
Celera2122,329,574 - 122,382,723 (-)NCBI
Cytogenetic Map2q14.3NCBI
HuRef2121,328,848 - 121,381,981 (-)NCBIHuRef
CHM1_12129,027,954 - 129,081,083 (-)NCBICHM1_1
Hs6st1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39136,107,481 - 36,145,527 (+)NCBIGRCm39mm39
GRCm39 Ensembl136,107,481 - 36,145,527 (+)Ensembl
GRCm38136,068,400 - 36,106,446 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl136,068,400 - 36,106,446 (+)EnsemblGRCm38mm10GRCm38
MGSCv37136,125,245 - 36,163,291 (+)NCBIGRCm37mm9NCBIm37
MGSCv36136,012,955 - 36,050,992 (+)NCBImm8
Celera135,889,714 - 35,892,649 (+)NCBICelera
Cytogenetic Map1BNCBI
Hs6st1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2938,283,502 - 38,322,684 (+)NCBI
Rnor_6.0 Ensembl942,620,006 - 42,659,184 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0942,620,006 - 42,659,184 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0942,274,321 - 42,313,302 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4934,978,441 - 35,018,289 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1934,979,565 - 35,017,486 (+)NCBI
Celera936,051,788 - 36,090,818 (+)NCBICelera
Cytogenetic Map9q21NCBI
Hs6st1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554592,273,100 - 2,310,993 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554592,273,100 - 2,310,993 (+)NCBIChiLan1.0ChiLan1.0
HS6ST1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B128,935,748 - 128,961,536 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v02B31,949,260 - 32,002,848 (+)NCBIMhudiblu_PPA_v0panPan3
HS6ST1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11922,343,193 - 22,372,464 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1922,368,942 - 22,369,652 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1922,577,736 - 22,619,406 (+)NCBI
ROS_Cfam_1.01923,659,352 - 23,701,027 (+)NCBI
UMICH_Zoey_3.11922,312,680 - 22,354,323 (+)NCBI
UNSW_CanFamBas_1.01922,556,307 - 22,597,954 (+)NCBI
UU_Cfam_GSD_1.01923,687,676 - 23,729,328 (+)NCBI
Hs6st1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530398,531,679 - 98,578,226 (-)NCBI
SpeTri2.0NW_00493646943,039,494 - 43,086,041 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HS6ST1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1559,066,603 - 59,108,777 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11559,066,448 - 59,108,780 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21565,657,113 - 65,699,333 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HS6ST1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1101,918,019 - 1,971,060 (+)NCBI
ChlSab1.1 Ensembl101,918,154 - 1,971,610 (+)Ensembl
Vero_WHO_p1.0NW_02366606120,804,220 - 20,857,695 (-)NCBI
Hs6st1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473217,210,315 - 17,249,930 (+)NCBI

Position Markers
IB2493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372129,023,215 - 129,023,446UniSTSGRCh37
GRCh37121,758,318 - 21,758,550UniSTSGRCh37
Build 36121,630,905 - 21,631,137RGDNCBI36
Celera120,080,481 - 20,080,713RGD
Celera2122,329,735 - 122,329,966UniSTS
Cytogenetic Map2q21UniSTS
Cytogenetic Map1p36.12UniSTS
HuRef2121,329,009 - 121,329,240UniSTS
HuRef120,002,277 - 20,002,509UniSTS
Whitehead-YAC Contig Map2 UniSTS
RH76508  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372129,023,075 - 129,023,302UniSTSGRCh37
GRCh37121,758,463 - 21,758,692UniSTSGRCh37
Build 36121,631,050 - 21,631,279RGDNCBI36
Celera2122,329,595 - 122,329,822UniSTS
Celera120,080,626 - 20,080,854RGD
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map2q21UniSTS
HuRef2121,328,869 - 121,329,096UniSTS
HuRef120,002,422 - 20,002,650UniSTS
SHGC-145341  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372129,061,198 - 129,061,468UniSTSGRCh37
Build 362128,777,668 - 128,777,938RGDNCBI36
Celera2122,367,718 - 122,367,988RGD
Cytogenetic Map2q21UniSTS
HuRef2121,366,995 - 121,367,265UniSTS
TNG Radiation Hybrid Map274387.0UniSTS
RH78052  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q21UniSTS
UniSTS:482962  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37121,754,785 - 21,756,261UniSTSGRCh37
HuRef119,998,680 - 20,000,211UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2436
Count of miRNA genes:1029
Interacting mature miRNAs:1237
Transcripts:ENST00000259241, ENST00000463963, ENST00000469019, ENST00000494089
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 entire extraembryonic component
High 3
Medium 1788 764 1606 528 707 376 3657 1514 3390 392 1425 1527 164 926 2321 4
Low 644 2186 117 94 1207 88 698 679 318 26 20 81 7 278 467
Below cutoff 34 34

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB006179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC017079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK058121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL831893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP219645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CV569969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR005030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000259241   ⟹   ENSP00000259241
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2128,265,480 - 128,318,868 (-)Ensembl
RefSeq Acc Id: ENST00000463963
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2128,268,690 - 128,290,196 (-)Ensembl
RefSeq Acc Id: ENST00000469019
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2128,236,716 - 128,318,396 (-)Ensembl
RefSeq Acc Id: ENST00000494089
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2128,289,645 - 128,318,472 (-)Ensembl
RefSeq Acc Id: NM_004807   ⟹   NP_004798
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382128,265,480 - 128,318,868 (-)NCBI
GRCh372129,023,054 - 129,076,171 (-)RGD
Build 362128,739,524 - 128,792,641 (-)NCBI Archive
Celera2122,329,574 - 122,382,723 (-)RGD
HuRef2121,328,848 - 121,381,981 (-)ENTREZGENE
CHM1_12129,027,954 - 129,081,083 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004798   ⟸   NM_004807
- UniProtKB: O60243 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000259241   ⟸   ENST00000259241

Promoters
RGD ID:6815337
Promoter ID:HG_MRA:9084
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:BC001196,   BC019025,   BC047087
Position:
Human AssemblyChrPosition (strand)Source
Build 362128,742,991 - 128,743,491 (-)MPROMDB
RGD ID:6797598
Promoter ID:HG_KWN:34912
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_004807,   OTTHUMT00000331573,   OTTHUMT00000331574
Position:
Human AssemblyChrPosition (strand)Source
Build 362128,792,646 - 128,793,146 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
HS6ST1, ARG372TRP single nucleotide variant HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO [RCV000032891] Chr2:2q21 risk factor
HS6ST1, ARG296TRP single nucleotide variant Hypogonadotropic hypogonadism 15 with anosmia [RCV000032892] Chr2:2q21 risk factor
HS6ST1, ARG296GLN single nucleotide variant Hypogonadotropic hypogonadism 15 with anosmia [RCV000032893] Chr2:2q21 risk factor
HS6ST1, ARG313GLN single nucleotide variant Hypogonadotropic hypogonadism 15 with anosmia [RCV000032894] Chr2:2q21 risk factor
HS6ST1, MET394VAL single nucleotide variant Hypogonadotropic hypogonadism 15 with anosmia [RCV000032895] Chr2:2q21 risk factor
NM_004807.3(HS6ST1):c.206A>G (p.Tyr69Cys) single nucleotide variant not provided [RCV000520130] Chr2:128318358 [GRCh38]
Chr2:129075932 [GRCh37]
Chr2:2q14.3
uncertain significance
GRCh38/hg38 2q14.3-21.1(chr2:127440559-129427805)x3 copy number gain See cases [RCV000052948] Chr2:127440559..129427805 [GRCh38]
Chr2:128198135..130185378 [GRCh37]
Chr2:127914605..129901848 [NCBI36]
Chr2:2q14.3-21.1
pathogenic
GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1 copy number loss See cases [RCV000054058] Chr2:118086324..134964738 [GRCh38]
Chr2:118843900..135722308 [GRCh37]
Chr2:118560370..135438778 [NCBI36]
Chr2:2q14.1-21.3
pathogenic
GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1 copy number loss See cases [RCV000054059] Chr2:121824798..128870804 [GRCh38]
Chr2:122582374..129628378 [GRCh37]
Chr2:122298844..129344848 [NCBI36]
Chr2:2q14.3
pathogenic
GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1 copy number loss See cases [RCV000054060] Chr2:122324343..128371704 [GRCh38]
Chr2:123081919..129129278 [GRCh37]
Chr2:122798389..128845748 [NCBI36]
Chr2:2q14.3
pathogenic
NM_004807.2(HS6ST1):c.620C>T (p.Ser207Leu) single nucleotide variant Malignant melanoma [RCV000065056] Chr2:128268778 [GRCh38]
Chr2:129026352 [GRCh37]
Chr2:128742822 [NCBI36]
Chr2:2q14.3
not provided
GRCh38/hg38 2q14.3(chr2:127961465-128631641)x3 copy number gain See cases [RCV000135556] Chr2:127961465..128631641 [GRCh38]
Chr2:128719039..129389215 [GRCh37]
Chr2:128435509..129105685 [NCBI36]
Chr2:2q14.3
likely benign
GRCh38/hg38 2q14.3(chr2:123169989-128460075)x1 copy number loss See cases [RCV000135455] Chr2:123169989..128460075 [GRCh38]
Chr2:123927565..129217649 [GRCh37]
Chr2:123644035..128934119 [NCBI36]
Chr2:2q14.3
pathogenic
GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1 copy number loss See cases [RCV000136714] Chr2:123445762..140592538 [GRCh38]
Chr2:124203338..141350107 [GRCh37]
Chr2:123919808..141066577 [NCBI36]
Chr2:2q14.3-22.1
pathogenic
GRCh38/hg38 2q14.3-21.1(chr2:122847356-129545581)x1 copy number loss See cases [RCV000137467] Chr2:122847356..129545581 [GRCh38]
Chr2:123604932..130303154 [GRCh37]
Chr2:123321402..130019624 [NCBI36]
Chr2:2q14.3-21.1
likely pathogenic
GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3 copy number gain See cases [RCV000138369] Chr2:127063206..130527454 [GRCh38]
Chr2:127820782..131285027 [GRCh37]
Chr2:127537252..131001497 [NCBI36]
Chr2:2q14.3-21.1
uncertain significance
GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1 copy number loss See cases [RCV000141584] Chr2:115302067..129071130 [GRCh38]
Chr2:116059643..129828703 [GRCh37]
Chr2:115776113..129545173 [NCBI36]
Chr2:2q14.1-14.3
pathogenic
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) single nucleotide variant Hypogonadotropic hypogonadism 15 with or without anosmia [RCV001258243]|Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000156968]|not provided [RCV001358502]|not specified [RCV000455725] Chr2:128268254 [GRCh38]
Chr2:129025828 [GRCh37]
Chr2:2q14.3
likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004807.3(HS6ST1):c.1121G>A (p.Ser374Asn) single nucleotide variant not specified [RCV000238859] Chr2:128268277 [GRCh38]
Chr2:129025851 [GRCh37]
Chr2:2q14.3
benign
NM_004807.3(HS6ST1):c.233C>T (p.Ser78Leu) single nucleotide variant not specified [RCV000239118] Chr2:128318331 [GRCh38]
Chr2:129075905 [GRCh37]
Chr2:2q14.3
uncertain significance
GRCh37/hg19 2q14.3-22.1(chr2:128490257-138210164)x1 copy number loss See cases [RCV000445892] Chr2:128490257..138210164 [GRCh37]
Chr2:2q14.3-22.1
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3
drug response
GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1 copy number loss See cases [RCV000512348] Chr2:120571363..141627287 [GRCh37]
Chr2:2q14.2-22.1
pathogenic
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1 copy number loss See cases [RCV001194541] Chr2:122952356..133826358 [GRCh37]
Chr2:2q14.3-21.2
likely pathogenic
NM_004807.3(HS6ST1):c.1112G>A (p.Arg371His) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000986813] Chr2:128268286 [GRCh38]
Chr2:129025860 [GRCh37]
Chr2:2q14.3
likely benign
GRCh37/hg19 2q14.3(chr2:128873176-129190198)x3 copy number gain not provided [RCV000849531] Chr2:128873176..129190198 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_004807.3(HS6ST1):c.261C>A (p.Asp87Glu) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000986815] Chr2:128318303 [GRCh38]
Chr2:129075877 [GRCh37]
Chr2:2q14.3
likely benign
NM_004807.3(HS6ST1):c.745C>A (p.Arg249Ser) single nucleotide variant Hypogonadotropic hypogonadism 15 with or without anosmia [RCV001391312]|Hypogonadotropic hypogonadism 7 with or without anosmia [RCV000986814]|not provided [RCV000949482] Chr2:128268653 [GRCh38]
Chr2:129026227 [GRCh37]
Chr2:2q14.3
benign|likely benign
NM_004807.3(HS6ST1):c.955T>A (p.Tyr319Asn) single nucleotide variant Hypogonadotropic hypogonadism 15 with or without anosmia [RCV001196831] Chr2:128268443 [GRCh38]
Chr2:129026017 [GRCh37]
Chr2:2q14.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5201 AgrOrtholog
COSMIC HS6ST1 COSMIC
Ensembl Genes ENSG00000136720 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000259241 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000259241 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000136720 GTEx
HGNC ID HGNC:5201 ENTREZGENE
Human Proteome Map HS6ST1 Human Proteome Map
InterPro Heparan_SO4-6-sulfoTrfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sulfotransferase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9394 UniProtKB/Swiss-Prot
NCBI Gene 9394 ENTREZGENE
OMIM 604846 OMIM
  614880 OMIM
PANTHER PTHR12812 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Sulfotransfer_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35102 PharmGKB
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RAF9_HUMAN UniProtKB/TrEMBL
  H6ST1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B4DEP2 UniProtKB/Swiss-Prot
  B4DJ29 UniProtKB/Swiss-Prot
  Q53SL2 UniProtKB/Swiss-Prot
  Q9BVI1 UniProtKB/Swiss-Prot