HS6ST2 (heparan sulfate 6-O-sulfotransferase 2) - Rat Genome Database

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Gene: HS6ST2 (heparan sulfate 6-O-sulfotransferase 2) Homo sapiens
Analyze
Symbol: HS6ST2
Name: heparan sulfate 6-O-sulfotransferase 2
RGD ID: 1605906
HGNC Page HGNC
Description: Predicted to have heparan sulfate 6-O-sulfotransferase activity. Predicted to be involved in heparan sulfate proteoglycan biosynthetic process, enzymatic modification. Predicted to localize to Golgi membrane. Implicated in Paganini-Miozzo syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: heparan-sulfate 6-O-sulfotransferase 2; HS6ST-2; MGC130022; MGC130023; MRXSPM
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 EnsemblX132,626,016 - 132,961,395 (-)EnsemblGRCh38hg38GRCh38
GRCh38X132,626,012 - 132,961,370 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X131,760,043 - 132,095,398 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X131,587,719 - 131,923,093 (-)NCBINCBI36hg18NCBI36
CeleraX132,146,408 - 132,481,789 (-)NCBI
Cytogenetic MapXq26.2NCBI
HuRefX121,164,083 - 121,496,636 (-)NCBIHuRef
CHM1_1X131,671,551 - 132,006,998 (-)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

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:10644753   PMID:12477932   PMID:12492399   PMID:14702039   PMID:15489334   PMID:15772651   PMID:16303743   PMID:21443520   PMID:21873635   PMID:23376485   PMID:24024966   PMID:24563483  
PMID:26186194   PMID:26496610   PMID:28514442   PMID:29104277   PMID:29568061   PMID:29899528   PMID:29955039   PMID:30471091   PMID:31073040   PMID:32353859   PMID:33060197  


Genomics

Comparative Map Data
HS6ST2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX132,626,016 - 132,961,395 (-)EnsemblGRCh38hg38GRCh38
GRCh38X132,626,012 - 132,961,370 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X131,760,043 - 132,095,398 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X131,587,719 - 131,923,093 (-)NCBINCBI36hg18NCBI36
CeleraX132,146,408 - 132,481,789 (-)NCBI
Cytogenetic MapXq26.2NCBI
HuRefX121,164,083 - 121,496,636 (-)NCBIHuRef
CHM1_1X131,671,551 - 132,006,998 (-)NCBICHM1_1
Hs6st2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X50,475,514 - 50,770,922 (-)NCBIGRCm39mm39
GRCm39 EnsemblX50,476,089 - 50,770,733 (-)Ensembl
GRCm38X51,386,637 - 51,681,705 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX51,387,212 - 51,681,856 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X48,740,389 - 49,034,779 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X47,631,840 - 47,925,107 (-)NCBImm8
CeleraX38,808,280 - 39,103,506 (-)NCBICelera
Cytogenetic MapXA5NCBI
Hs6st2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X130,966,547 - 131,261,629 (-)NCBI
Rnor_6.0 EnsemblX138,677,580 - 138,972,684 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X138,675,326 - 138,972,774 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X138,733,912 - 139,028,075 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X138,268,438 - 138,566,049 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX129,889,782 - 130,179,847 (-)NCBICelera
Cytogenetic MapXq36NCBI
Hs6st2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554732,002,725 - 2,289,662 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554732,002,475 - 2,291,868 (+)NCBIChiLan1.0ChiLan1.0
HS6ST2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X132,063,409 - 132,396,038 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX132,065,614 - 132,395,772 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X121,757,028 - 122,090,371 (-)NCBIMhudiblu_PPA_v0panPan3
HS6ST2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X103,529,705 - 103,816,049 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX103,531,378 - 103,815,538 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX89,701,832 - 89,987,973 (-)NCBI
ROS_Cfam_1.0X105,389,057 - 105,672,488 (-)NCBI
UMICH_Zoey_3.1X102,799,821 - 103,086,005 (-)NCBI
UNSW_CanFamBas_1.0X104,675,560 - 104,961,216 (-)NCBI
UU_Cfam_GSD_1.0X104,447,839 - 104,734,667 (-)NCBI
Hs6st2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X101,700,046 - 101,981,296 (-)NCBI
SpeTri2.0NW_0049366911,976,449 - 2,257,303 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HS6ST2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX108,757,821 - 109,044,695 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X108,755,577 - 109,043,976 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X124,748,947 - 124,840,520 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HS6ST2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X107,779,998 - 108,122,567 (-)NCBI
Hs6st2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479712,356,538 - 12,665,283 (-)NCBI

Position Markers
G30605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371919,867,185 - 19,867,310UniSTSGRCh37
GRCh37X132,061,958 - 132,062,083UniSTSGRCh37
Build 36X131,889,639 - 131,889,764RGDNCBI36
Celera1919,772,547 - 19,772,672UniSTS
CeleraX132,448,333 - 132,448,458RGD
Cytogenetic Map19p13.11UniSTS
Cytogenetic MapXq26.2UniSTS
HuRef1919,429,253 - 19,429,378UniSTS
HuRefX121,466,421 - 121,466,546UniSTS
AFMa203zh5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,984,572 - 131,984,796UniSTSGRCh37
Build 36X131,812,253 - 131,812,477RGDNCBI36
CeleraX132,370,945 - 132,371,169RGD
Cytogenetic MapXq26.2UniSTS
Whitehead-RH MapX289.0UniSTS
Whitehead-YAC Contig MapX UniSTS
RH98637  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,760,105 - 131,760,260UniSTSGRCh37
Build 36X131,587,786 - 131,587,941RGDNCBI36
CeleraX132,146,475 - 132,146,630RGD
Cytogenetic MapXq26.2UniSTS
HuRefX121,164,150 - 121,164,305UniSTS
GeneMap99-GB4 RH MapX314.67UniSTS
G42852  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,074,770 - 132,075,674UniSTSGRCh37
Build 36X131,902,451 - 131,903,355RGDNCBI36
CeleraX132,461,145 - 132,462,049RGD
Cytogenetic MapXq26.2UniSTS
HuRefX121,478,671 - 121,479,204UniSTS
G42888  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,975,946 - 131,976,897UniSTSGRCh37
Build 36X131,803,627 - 131,804,578RGDNCBI36
CeleraX132,362,318 - 132,363,269RGD
Cytogenetic MapXq26.2UniSTS
HuRefX121,380,773 - 121,381,724UniSTS
DXS692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,984,714 - 131,984,833UniSTSGRCh37
GRCh37X131,984,715 - 131,984,832UniSTSGRCh37
Build 36X131,812,395 - 131,812,514RGDNCBI36
CeleraX132,371,088 - 132,371,205UniSTS
CeleraX132,371,087 - 132,371,206RGD
Cytogenetic MapXq26.2UniSTS
UniSTS:99463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,970,055 - 131,970,134UniSTSGRCh37
Build 36X131,797,736 - 131,797,815RGDNCBI36
CeleraX132,356,427 - 132,356,506RGD
HuRefX121,374,849 - 121,374,928UniSTS
DXS1308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,851,281 - 131,851,390UniSTSGRCh37
Build 36X131,678,962 - 131,679,071RGDNCBI36
CeleraX132,237,644 - 132,237,753RGD
Cytogenetic MapXq26.2UniSTS
HuRefX121,255,587 - 121,255,696UniSTS
DXS7811  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,011,062 - 132,011,196UniSTSGRCh37
Build 36X131,838,743 - 131,838,877RGDNCBI36
CeleraX132,397,435 - 132,397,569RGD
Cytogenetic MapXq26.2UniSTS
HuRefX121,415,530 - 121,415,664UniSTS
SHGC-85845  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,772,709 - 131,773,023UniSTSGRCh37
Build 36X131,600,390 - 131,600,704RGDNCBI36
CeleraX132,159,077 - 132,159,391RGD
Cytogenetic MapXq26.2UniSTS
HuRefX121,176,902 - 121,177,216UniSTS
TNG Radiation Hybrid MapX27700.0UniSTS
G66648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,909,049 - 131,909,981UniSTSGRCh37
Build 36X131,736,730 - 131,737,662RGDNCBI36
CeleraX132,295,412 - 132,296,344RGD
Cytogenetic MapXq26.2UniSTS
HuRefX121,313,127 - 121,314,059UniSTS
G66742  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,818,744 - 131,819,742UniSTSGRCh37
Build 36X131,646,425 - 131,647,423RGDNCBI36
CeleraX132,205,106 - 132,206,104RGD
Cytogenetic MapXq26.2UniSTS
HuRefX121,222,929 - 121,223,927UniSTS
G66743  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,955,538 - 131,955,655UniSTSGRCh37
Build 36X131,783,219 - 131,783,336RGDNCBI36
CeleraX132,341,912 - 132,342,029RGD
Cytogenetic MapXq26.2UniSTS
HuRefX121,360,033 - 121,360,150UniSTS
AL008920  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,942,221 - 131,942,342UniSTSGRCh37
Build 36X131,769,902 - 131,770,023RGDNCBI36
CeleraX132,328,583 - 132,328,704RGD
Cytogenetic MapXq26.2UniSTS
HuRefX121,346,737 - 121,346,858UniSTS
DXS7348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,902,688 - 131,902,761UniSTSGRCh37
Build 36X131,730,369 - 131,730,442RGDNCBI36
CeleraX132,289,051 - 132,289,124RGD
Cytogenetic MapXq26.2UniSTS
HuRefX121,306,766 - 121,306,839UniSTS
RH47723  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,897,573 - 131,897,751UniSTSGRCh37
Build 36X131,725,254 - 131,725,432RGDNCBI36
CeleraX132,283,936 - 132,284,114RGD
Cytogenetic MapXq26.2UniSTS
HuRefX121,301,651 - 121,301,829UniSTS
GeneMap99-GB4 RH MapX314.67UniSTS
DXS7350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,018,716 - 132,018,891UniSTSGRCh37
Build 36X131,846,397 - 131,846,572RGDNCBI36
CeleraX132,405,088 - 132,405,263RGD
Cytogenetic MapXq26.2UniSTS
HuRefX121,423,062 - 121,423,237UniSTS
DXS7352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,025,201 - 132,025,260UniSTSGRCh37
Build 36X131,852,882 - 131,852,941RGDNCBI36
CeleraX132,411,574 - 132,411,634RGD
Cytogenetic MapXq26.2UniSTS
HuRefX121,429,688 - 121,429,748UniSTS
DXS7351  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,773,181 - 131,773,255UniSTSGRCh37
Build 36X131,600,862 - 131,600,936RGDNCBI36
CeleraX132,159,549 - 132,159,623RGD
Cytogenetic MapXq26.2UniSTS
HuRefX121,177,374 - 121,177,448UniSTS
AL023922  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,776,618 - 131,776,737UniSTSGRCh37
Build 36X131,604,299 - 131,604,418RGDNCBI36
CeleraX132,162,986 - 132,163,105RGD
Cytogenetic MapXq26.2UniSTS
HuRefX121,180,811 - 121,180,930UniSTS
AL008921  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,087,601 - 132,087,746UniSTSGRCh37
Build 36X131,915,282 - 131,915,427RGDNCBI36
CeleraX132,473,976 - 132,474,121RGD
Cytogenetic MapXq26.2UniSTS
HuRefX121,491,186 - 121,491,331UniSTS
DXS7050  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,008,042 - 132,008,146UniSTSGRCh37
Build 36X131,835,723 - 131,835,827RGDNCBI36
CeleraX132,394,415 - 132,394,519RGD
Cytogenetic MapXq26.2UniSTS
HuRefX121,412,619 - 121,412,723UniSTS
Whitehead-RH MapX290.2UniSTS
Whitehead-YAC Contig MapX UniSTS
MARC_23783-23784:1027523790:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,762,466 - 131,763,088UniSTSGRCh37
Build 36X131,590,147 - 131,590,769RGDNCBI36
CeleraX132,148,836 - 132,149,458RGD
HS6ST2__6595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,759,939 - 131,760,840UniSTSGRCh37
Build 36X131,587,620 - 131,588,521RGDNCBI36
CeleraX132,146,309 - 132,147,210RGD
HuRefX121,163,984 - 121,164,885UniSTS
G54806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,076,406 - 132,077,360UniSTSGRCh37
CeleraX132,462,781 - 132,463,735UniSTS
Cytogenetic MapXq26.2UniSTS
HuRefX121,479,936 - 121,480,890UniSTS
G54807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,830,742 - 131,831,720UniSTSGRCh37
CeleraX132,217,105 - 132,218,083UniSTS
Cytogenetic MapXq26.2UniSTS
HuRefX121,235,038 - 121,236,016UniSTS
G54850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,910,137 - 131,910,958UniSTSGRCh37
CeleraX132,296,500 - 132,297,321UniSTS
Cytogenetic MapXq26.2UniSTS
HuRefX121,314,215 - 121,315,036UniSTS
DXS692  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq26.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1199
Count of miRNA genes:671
Interacting mature miRNAs:755
Transcripts:ENST00000370833, ENST00000370836, ENST00000406696, ENST00000521489, ENST00000602570
Prediction methods:Microtar, Miranda, Pita, 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 adipose tissue appendage entire extraembryonic component
High
Medium 68 2 44 17 18 18 167 19 341 91 268 154 5 3 2
Low 624 156 407 126 73 46 1025 827 2626 159 1038 419 84 107 822 2
Below cutoff 1673 2136 1078 314 737 234 2966 1315 729 80 115 960 81 1041 1840 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001077188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_147175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB067776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB067777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI253113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL831923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z81365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z82205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z86064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000370833   ⟹   ENSP00000359870
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,628,223 - 132,958,602 (-)Ensembl
RefSeq Acc Id: ENST00000370836   ⟹   ENSP00000359873
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,626,016 - 132,961,395 (-)Ensembl
RefSeq Acc Id: ENST00000406696   ⟹   ENSP00000384013
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,628,223 - 132,958,602 (-)Ensembl
RefSeq Acc Id: ENST00000521489   ⟹   ENSP00000429473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,627,970 - 132,961,395 (-)Ensembl
RefSeq Acc Id: ENST00000602570
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,735,084 - 132,758,332 (-)Ensembl
RefSeq Acc Id: ENST00000640529   ⟹   ENSP00000491722
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX132,628,852 - 132,957,277 (-)Ensembl
RefSeq Acc Id: NM_001077188   ⟹   NP_001070656
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,626,015 - 132,961,370 (-)NCBI
GRCh37X131,760,038 - 132,095,423 (-)RGD
Build 36X131,587,719 - 131,923,093 (-)NCBI Archive
CeleraX132,146,408 - 132,481,789 (-)RGD
HuRefX121,164,083 - 121,496,636 (-)RGD
CHM1_1X131,671,551 - 132,006,998 (-)NCBI
Sequence:
RefSeq Acc Id: NM_147175   ⟹   NP_671704
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,626,015 - 132,961,370 (-)NCBI
GRCh37X131,760,038 - 132,095,423 (-)RGD
Build 36X131,587,719 - 131,923,093 (-)NCBI Archive
CeleraX132,146,408 - 132,481,789 (-)RGD
HuRefX121,164,083 - 121,496,636 (-)RGD
CHM1_1X131,671,551 - 132,006,998 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262491   ⟹   XP_005262548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,626,012 - 132,958,693 (-)NCBI
GRCh37X131,760,038 - 132,095,423 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531406   ⟹   XP_011529708
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,626,012 - 132,957,518 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531407   ⟹   XP_011529709
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,708,596 - 132,958,693 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531408   ⟹   XP_011529710
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,840,489 - 132,958,693 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029945   ⟹   XP_016885434
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,626,012 - 132,957,938 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029946   ⟹   XP_016885435
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,626,012 - 132,957,989 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_671704   ⟸   NM_147175
- Peptide Label: isoform S
- UniProtKB: Q96MM7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001070656   ⟸   NM_001077188
- Peptide Label: isoform L
- UniProtKB: Q96MM7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262548   ⟸   XM_005262491
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529708   ⟸   XM_011531406
- Peptide Label: isoform X2
- UniProtKB: Q96MM7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529709   ⟸   XM_011531407
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011529710   ⟸   XM_011531408
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016885435   ⟸   XM_017029946
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016885434   ⟸   XM_017029945
- Peptide Label: isoform X2
- UniProtKB: Q96MM7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000359870   ⟸   ENST00000370833
RefSeq Acc Id: ENSP00000359873   ⟸   ENST00000370836
RefSeq Acc Id: ENSP00000429473   ⟸   ENST00000521489
RefSeq Acc Id: ENSP00000491722   ⟸   ENST00000640529
RefSeq Acc Id: ENSP00000384013   ⟸   ENST00000406696

Promoters
RGD ID:13628130
Promoter ID:EPDNEW_H29340
Type:initiation region
Name:HS6ST2_1
Description:heparan sulfate 6-O-sulfotransferase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X132,958,582 - 132,958,642EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_001077188.1(HS6ST2):c.1067+15305C>T single nucleotide variant Lung cancer [RCV000102327] ChrX:132653808 [GRCh38]
ChrX:131787836 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_001077188.1(HS6ST2):c.948-50482G>T single nucleotide variant Lung cancer [RCV000102328] ChrX:132758976 [GRCh38]
ChrX:131893004 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh38/hg38 Xq26.2(chrX:132776918-133371859)x3 copy number gain See cases [RCV000050941] ChrX:132776918..133371859 [GRCh38]
ChrX:131910946..132505887 [GRCh37]
ChrX:131738627..132333553 [NCBI36]
ChrX:Xq26.2
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001077188.1(HS6ST2):c.1655G>A (p.Arg552Gln) single nucleotide variant Malignant melanoma [RCV000073081] ChrX:132628506 [GRCh38]
ChrX:131762534 [GRCh37]
ChrX:131590215 [NCBI36]
ChrX:Xq26.2
not provided
NM_001077188.1(HS6ST2):c.1257G>A (p.Met419Ile) single nucleotide variant Malignant melanoma [RCV000073082] ChrX:132628904 [GRCh38]
ChrX:131762932 [GRCh37]
ChrX:131590613 [NCBI36]
ChrX:Xq26.2
not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001077188.2(HS6ST2):c.67G>T (p.Val23Phe) single nucleotide variant Paganini-Miozzo syndrome [RCV001291830] ChrX:132958536 [GRCh38]
ChrX:132092564 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq26.2(chrX:131885089-132500236)x2 copy number gain See cases [RCV000203429] ChrX:131885089..132500236 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:129760788-132675352)x0 copy number loss See cases [RCV000239967] ChrX:129760788..132675352 [GRCh37]
ChrX:Xq26.1-26.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:129796796-132686500)x0 copy number loss See cases [RCV000240002] ChrX:129796796..132686500 [GRCh37]
ChrX:Xq26.1-26.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.2(chrX:131859871-132462828)x2 copy number gain See cases [RCV000447815] ChrX:131859871..132462828 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq25-26.2(chrX:123108906-133026079)x3 copy number gain See cases [RCV000448069] ChrX:123108906..133026079 [GRCh37]
ChrX:Xq25-26.2
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.2(chrX:131864764-132527601)x3 copy number gain See cases [RCV000511557] ChrX:131864764..132527601 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1 copy number loss not provided [RCV000684387] ChrX:126759247..135790885 [GRCh37]
ChrX:Xq25-26.3
pathogenic
GRCh37/hg19 Xq26.2(chrX:131874401-132523914)x3 copy number gain not provided [RCV000684392] ChrX:131874401..132523914 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq26.2(chrX:131894744-132292083)x2 copy number gain not provided [RCV000753780] ChrX:131894744..132292083 [GRCh37]
ChrX:Xq26.2
benign
GRCh37/hg19 Xq26.2(chrX:131910697-131941520)x1 copy number loss not provided [RCV000753781] ChrX:131910697..131941520 [GRCh37]
ChrX:Xq26.2
benign
GRCh37/hg19 Xq26.2(chrX:131936888-131941520)x0 copy number loss not provided [RCV000753782] ChrX:131936888..131941520 [GRCh37]
ChrX:Xq26.2
benign
GRCh37/hg19 Xq26.2(chrX:131939320-131941520)x0 copy number loss not provided [RCV000753783] ChrX:131939320..131941520 [GRCh37]
ChrX:Xq26.2
benign
GRCh37/hg19 Xq26.2(chrX:131939320-131942253)x0 copy number loss not provided [RCV000753784] ChrX:131939320..131942253 [GRCh37]
ChrX:Xq26.2
benign
GRCh37/hg19 Xq26.2(chrX:131939420-131941520)x0 copy number loss not provided [RCV000753785] ChrX:131939420..131941520 [GRCh37]
ChrX:Xq26.2
benign
GRCh37/hg19 Xq26.2(chrX:131939420-131942593)x0 copy number loss not provided [RCV000753786] ChrX:131939420..131942593 [GRCh37]
ChrX:Xq26.2
benign
GRCh37/hg19 Xq26.2(chrX:131939520-131941520)x0 copy number loss not provided [RCV000753787] ChrX:131939520..131941520 [GRCh37]
ChrX:Xq26.2
benign
GRCh37/hg19 Xq26.2(chrX:131939520-131942253)x0 copy number loss not provided [RCV000753788] ChrX:131939520..131942253 [GRCh37]
ChrX:Xq26.2
benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_001077188.2(HS6ST2):c.975A>G (p.Ala325=) single nucleotide variant not provided [RCV000882857] ChrX:132708467 [GRCh38]
ChrX:131842495 [GRCh37]
ChrX:Xq26.2
benign
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366) copy number loss Infantile nystagmus, X-linked [RCV000767808] ChrX:130280298..132670366 [GRCh37]
ChrX:Xq26.1-26.2
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001077188.2(HS6ST2):c.916G>C (p.Gly306Arg) single nucleotide variant Paganini-Miozzo syndrome [RCV000782268] ChrX:132956839 [GRCh38]
ChrX:132090867 [GRCh37]
ChrX:Xq26.2
pathogenic
GRCh37/hg19 Xq26.2(chrX:131860401-132462829)x3 copy number gain not provided [RCV000848738] ChrX:131860401..132462829 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq26.2(chrX:131864764-132517869)x2 copy number gain not provided [RCV000846334] ChrX:131864764..132517869 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_001077188.2(HS6ST2):c.1878G>A (p.Gln626=) single nucleotide variant not provided [RCV001200548] ChrX:132628283 [GRCh38]
ChrX:131762311 [GRCh37]
ChrX:Xq26.2
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_001077188.2(HS6ST2):c.152G>T (p.Arg51Leu) single nucleotide variant not provided [RCV000949451] ChrX:132958451 [GRCh38]
ChrX:132092479 [GRCh37]
ChrX:Xq26.2
benign
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_001077188.2(HS6ST2):c.321G>T (p.Leu107=) single nucleotide variant not provided [RCV000887369] ChrX:132958282 [GRCh38]
ChrX:132092310 [GRCh37]
ChrX:Xq26.2
benign
NM_001077188.2(HS6ST2):c.1724A>G (p.Gln575Arg) single nucleotide variant not provided [RCV001171646] ChrX:132628437 [GRCh38]
ChrX:131762465 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_001077188.2(HS6ST2):c.1481C>T (p.Ser494Leu) single nucleotide variant not provided [RCV001092158] ChrX:132628680 [GRCh38]
ChrX:131762708 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001077188.2(HS6ST2):c.652A>C (p.Lys218Gln) single nucleotide variant Paganini-Miozzo syndrome [RCV001329557] ChrX:132957103 [GRCh38]
ChrX:132091131 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_001077188.2(HS6ST2):c.155C>T (p.Ala52Val) single nucleotide variant Paganini-Miozzo syndrome [RCV001291828] ChrX:132958448 [GRCh38]
ChrX:132092476 [GRCh37]
ChrX:Xq26.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19133 AgrOrtholog
COSMIC HS6ST2 COSMIC
Ensembl Genes ENSG00000171004 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000359870 UniProtKB/Swiss-Prot
  ENSP00000359873 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000384013 UniProtKB/Swiss-Prot
  ENSP00000429473 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000491722 UniProtKB/TrEMBL
Ensembl Transcript ENST00000370833 UniProtKB/Swiss-Prot
  ENST00000370836 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000406696 UniProtKB/Swiss-Prot
  ENST00000521489 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000640529 UniProtKB/TrEMBL
GTEx ENSG00000171004 GTEx
HGNC ID HGNC:19133 ENTREZGENE
Human Proteome Map HS6ST2 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:90161 UniProtKB/Swiss-Prot
NCBI Gene 90161 ENTREZGENE
OMIM 300545 OMIM
  301025 OMIM
PANTHER PTHR12812 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Sulfotransfer_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134950831 PharmGKB
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1W2PQ14_HUMAN UniProtKB/TrEMBL
  H6ST2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B9WRT4 UniProtKB/Swiss-Prot
  B9WRT5 UniProtKB/Swiss-Prot
  E9PDY5 UniProtKB/Swiss-Prot
  Q2TB13 UniProtKB/Swiss-Prot
  Q4VC07 UniProtKB/Swiss-Prot
  Q6PIC4 UniProtKB/Swiss-Prot
  Q86SM9 UniProtKB/Swiss-Prot
  Q8N3T4 UniProtKB/Swiss-Prot
  Q8NBN4 UniProtKB/Swiss-Prot
  Q96SJ4 UniProtKB/Swiss-Prot