HS6ST3 (heparan sulfate 6-O-sulfotransferase 3) - Rat Genome Database

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Gene: HS6ST3 (heparan sulfate 6-O-sulfotransferase 3) Homo sapiens
Analyze
Symbol: HS6ST3
Name: heparan sulfate 6-O-sulfotransferase 3
RGD ID: 1314189
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 integral component of membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: DKFZp761K2315; heparan-sulfate 6-O-sulfotransferase 3; HS6ST-3
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 Ensembl1396,090,107 - 96,839,562 (+)EnsemblGRCh38hg38GRCh38
GRCh381396,090,107 - 96,839,562 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371396,742,361 - 97,491,816 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361395,541,094 - 96,289,813 (+)NCBINCBI36hg18NCBI36
Build 341395,541,093 - 96,289,812NCBI
Celera1377,590,616 - 78,339,250 (+)NCBI
Cytogenetic Map13q32.1NCBI
HuRef1377,340,282 - 78,088,949 (+)NCBIHuRef
CHM1_11396,713,494 - 97,462,214 (+)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:11991713   PMID:12477932   PMID:14702039   PMID:15057823   PMID:15226404   PMID:20379614   PMID:21310492   PMID:21647334   PMID:21873635   PMID:23563607   PMID:24371161  
PMID:24684796   PMID:28017727   PMID:32838362  


Genomics

Comparative Map Data
HS6ST3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1396,090,107 - 96,839,562 (+)EnsemblGRCh38hg38GRCh38
GRCh381396,090,107 - 96,839,562 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371396,742,361 - 97,491,816 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361395,541,094 - 96,289,813 (+)NCBINCBI36hg18NCBI36
Build 341395,541,093 - 96,289,812NCBI
Celera1377,590,616 - 78,339,250 (+)NCBI
Cytogenetic Map13q32.1NCBI
HuRef1377,340,282 - 78,088,949 (+)NCBIHuRef
CHM1_11396,713,494 - 97,462,214 (+)NCBICHM1_1
Hs6st3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3914119,374,902 - 120,226,864 (+)NCBIGRCm39mm39
GRCm39 Ensembl14119,375,753 - 120,107,227 (+)Ensembl
GRCm3814119,137,516 - 119,869,815 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl14119,138,341 - 119,869,815 (+)EnsemblGRCm38mm10GRCm38
MGSCv3714119,537,487 - 120,269,037 (+)NCBIGRCm37mm9NCBIm37
MGSCv3614118,273,483 - 119,004,997 (+)NCBImm8
Celera14117,692,032 - 118,432,138 (+)NCBICelera
Cytogenetic Map14E4NCBI
Hs6st3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21596,281,502 - 97,000,804 (+)NCBI
Rnor_6.0 Ensembl15104,448,600 - 105,254,214 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.015104,448,479 - 105,254,540 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.015107,871,035 - 107,871,884 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.015108,635,603 - 108,663,069 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.415104,157,904 - 104,914,126NCBIRGSC3.4rn4RGSC3.4
Celera1595,121,926 - 95,826,748 (+)NCBICelera
Cytogenetic Map15q24NCBI
Hs6st3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540413,468,128 - 14,128,707 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540413,461,906 - 14,129,089 (-)NCBIChiLan1.0ChiLan1.0
HS6ST3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11396,414,415 - 97,150,741 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1396,414,409 - 97,148,398 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01377,256,399 - 77,998,022 (+)NCBIMhudiblu_PPA_v0panPan3
HS6ST3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12247,257,641 - 47,265,143 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2247,117,757 - 47,259,351 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2246,415,114 - 47,045,651 (+)NCBI
ROS_Cfam_1.02247,059,742 - 47,690,994 (+)NCBI
UMICH_Zoey_3.12246,722,627 - 47,354,975 (+)NCBI
UNSW_CanFamBas_1.02246,755,655 - 47,387,212 (+)NCBI
UU_Cfam_GSD_1.02246,792,123 - 47,424,056 (+)NCBI
Hs6st3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945182,140,408 - 182,794,486 (+)NCBI
SpeTri2.0NW_00493647213,157,669 - 13,811,747 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HS6ST3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1165,516,296 - 66,186,846 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11165,516,180 - 66,193,410 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21173,192,012 - 73,199,496 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HS6ST3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1374,840,589 - 75,576,397 (+)NCBI
Vero_WHO_p1.0NW_02366604631,277,947 - 32,026,474 (+)NCBI
Hs6st3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248792,678,403 - 3,408,630 (+)NCBI

Position Markers
D13S254  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371396,956,805 - 96,957,020UniSTSGRCh37
Build 361395,754,806 - 95,755,021RGDNCBI36
Celera1377,804,256 - 77,804,471RGD
Cytogenetic Map13q32.1UniSTS
HuRef1377,553,848 - 77,554,068UniSTS
Marshfield Genetic Map1376.66UniSTS
Marshfield Genetic Map1376.66RGD
D13S1280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371396,747,997 - 96,748,211UniSTSGRCh37
Build 361395,545,998 - 95,546,212RGDNCBI36
Celera1377,595,521 - 77,595,737RGD
Cytogenetic Map13q32.1UniSTS
HuRef1377,345,181 - 77,345,393UniSTS
Marshfield Genetic Map1375.19UniSTS
Marshfield Genetic Map1375.19RGD
Genethon Genetic Map1377.1UniSTS
deCODE Assembly Map1388.75UniSTS
RH77922  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371396,771,832 - 96,772,020UniSTSGRCh37
Build 361395,569,833 - 95,570,021RGDNCBI36
Celera1377,619,353 - 77,619,541RGD
Cytogenetic Map13q32.1UniSTS
HuRef1377,368,993 - 77,369,181UniSTS
GeneMap99-GB4 RH Map13270.3UniSTS
RH78584  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,491,560 - 97,491,772UniSTSGRCh37
Build 361396,289,561 - 96,289,773RGDNCBI36
Celera1378,338,998 - 78,339,210RGD
Cytogenetic Map13q32.1UniSTS
HuRef1378,088,693 - 78,088,905UniSTS
GeneMap99-GB4 RH Map13274.44UniSTS
NCBI RH Map13866.6UniSTS
SHGC-8118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,392,140 - 97,392,259UniSTSGRCh37
Build 361396,190,141 - 96,190,260RGDNCBI36
Celera1378,239,586 - 78,239,705RGD
Cytogenetic Map13q32.1UniSTS
HuRef1377,989,270 - 77,989,389UniSTS
Stanford-G3 RH Map132759.0UniSTS
NCBI RH Map13891.5UniSTS
D13S132  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,391,411 - 97,391,569UniSTSGRCh37
Build 361396,189,412 - 96,189,570RGDNCBI36
Celera1378,238,857 - 78,239,015RGD
Cytogenetic Map13q32.1UniSTS
HuRef1377,988,543 - 77,988,699UniSTS
Whitehead-YAC Contig Map13 UniSTS
G44302  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,488,292 - 97,488,440UniSTSGRCh37
Build 361396,286,293 - 96,286,441RGDNCBI36
Celera1378,335,730 - 78,335,878RGD
Cytogenetic Map13q32.1UniSTS
HuRef1378,085,425 - 78,085,573UniSTS
SHGC-68276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,226,369 - 97,226,465UniSTSGRCh37
Build 361396,024,370 - 96,024,466RGDNCBI36
Celera1378,073,802 - 78,073,898RGD
Cytogenetic Map13q32.1UniSTS
HuRef1377,823,509 - 77,823,605UniSTS
TNG Radiation Hybrid Map1335415.0UniSTS
G60459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371396,747,961 - 96,748,240UniSTSGRCh37
Build 361395,545,962 - 95,546,241RGDNCBI36
Celera1377,595,485 - 77,595,766RGD
Cytogenetic Map13q32.1UniSTS
HuRef1377,345,145 - 77,345,422UniSTS
TNG Radiation Hybrid Map478074.0UniSTS
D13S877E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,490,762 - 97,490,874UniSTSGRCh37
Build 361396,288,763 - 96,288,875RGDNCBI36
Celera1378,338,200 - 78,338,312RGD
Cytogenetic Map13q32.1UniSTS
HuRef1378,087,895 - 78,088,007UniSTS
SHGC-146476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,099,449 - 97,099,641UniSTSGRCh37
Build 361395,897,450 - 95,897,642RGDNCBI36
Celera1377,946,901 - 77,947,093RGD
Cytogenetic Map13q32.1UniSTS
HuRef1377,696,571 - 77,696,762UniSTS
TNG Radiation Hybrid Map1335530.0UniSTS
SHGC-146494  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,099,063 - 97,099,352UniSTSGRCh37
Build 361395,897,064 - 95,897,353RGDNCBI36
Celera1377,946,515 - 77,946,804RGD
Cytogenetic Map13q32.1UniSTS
HuRef1377,696,185 - 77,696,474UniSTS
TNG Radiation Hybrid Map1335530.0UniSTS
G17704  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,156,320 - 97,156,488UniSTSGRCh37
Build 361395,954,321 - 95,954,489RGDNCBI36
Celera1378,003,775 - 78,003,943RGD
Cytogenetic Map13q32.1UniSTS
HuRef1377,753,723 - 77,753,891UniSTS
SHGC-149555  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,047,088 - 97,047,390UniSTSGRCh37
Build 361395,845,089 - 95,845,391RGDNCBI36
Celera1377,894,531 - 77,894,833RGD
Cytogenetic Map13q32.1UniSTS
HuRef1377,644,112 - 77,644,414UniSTS
TNG Radiation Hybrid Map1335577.0UniSTS
SHGC-155001  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,487,887 - 97,488,199UniSTSGRCh37
Build 361396,285,888 - 96,286,200RGDNCBI36
Celera1378,335,325 - 78,335,637RGD
Cytogenetic Map13q32.1UniSTS
HuRef1378,085,020 - 78,085,332UniSTS
D13S1717  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,331,531 - 97,331,659UniSTSGRCh37
Build 361396,129,532 - 96,129,660RGDNCBI36
Celera1378,178,970 - 78,179,098RGD
HuRef1377,928,634 - 77,928,762UniSTS
D13S1758  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,189,095 - 97,189,437UniSTSGRCh37
Build 361395,987,096 - 95,987,438RGDNCBI36
Celera1378,036,532 - 78,036,874RGD
HuRef1377,786,479 - 77,786,821UniSTS
D13S1760  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,397,302 - 97,397,452UniSTSGRCh37
Build 361396,195,303 - 96,195,453RGDNCBI36
Celera1378,244,748 - 78,244,898RGD
HuRef1377,994,432 - 77,994,582UniSTS
D13S1763  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,045,898 - 97,046,108UniSTSGRCh37
Build 361395,843,899 - 95,844,109RGDNCBI36
Celera1377,893,341 - 77,893,551RGD
HuRef1377,642,921 - 77,643,131UniSTS
A002U05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,491,574 - 97,491,751UniSTSGRCh37
Build 361396,289,575 - 96,289,752RGDNCBI36
Celera1378,339,012 - 78,339,189RGD
Cytogenetic Map13q32.1UniSTS
HuRef1378,088,707 - 78,088,884UniSTS
GeneMap99-GB4 RH Map13273.71UniSTS
WI-14918  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371397,489,953 - 97,490,087UniSTSGRCh37
Build 361396,287,954 - 96,288,088RGDNCBI36
Celera1378,337,391 - 78,337,525RGD
Cytogenetic Map13q32.1UniSTS
HuRef1378,087,086 - 78,087,220UniSTS
GeneMap99-GB4 RH Map13273.71UniSTS
Whitehead-RH Map13257.7UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:224
Count of miRNA genes:171
Interacting mature miRNAs:179
Transcripts:ENST00000376705
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 90 309 21 321 91 752 19 7 16 8 313
Low 1294 921 1181 8 61 9 2668 1264 2677 145 704 790 1 697 1748
Below cutoff 916 1322 219 324 690 169 1274 797 250 123 634 661 161 497 727 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_153456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF339796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF339824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF539426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI937089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL158192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL159979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL160253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000376705   ⟹   ENSP00000365895
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1396,090,839 - 96,839,562 (+)Ensembl
RefSeq Acc Id: ENST00000620595   ⟹   ENSP00000483366
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1396,832,488 - 96,839,560 (+)Ensembl
RefSeq Acc Id: NM_153456   ⟹   NP_703157
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381396,090,107 - 96,839,562 (+)NCBI
GRCh371396,743,093 - 97,491,816 (+)NCBI
Build 361395,541,094 - 96,289,813 (+)NCBI Archive
Celera1377,590,616 - 78,339,250 (+)RGD
CHM1_11396,713,494 - 97,462,214 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521076   ⟹   XP_011519378
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381396,090,634 - 96,342,138 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020543   ⟹   XP_016876032
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381396,090,634 - 96,499,035 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_703157   ⟸   NM_153456
- Peptide Label: precursor
- UniProtKB: Q8IZP7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011519378   ⟸   XM_011521076
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016876032   ⟸   XM_017020543
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000483366   ⟸   ENST00000620595
RefSeq Acc Id: ENSP00000365895   ⟸   ENST00000376705


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|See cases [RCV000051380] Chr13:82581008..114327173 [GRCh38]
Chr13:83155143..115085141 [GRCh37]
Chr13:82053144..114110750 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.2-32.1(chr13:88260962-97285754)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051415]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051415]|See cases [RCV000051415] Chr13:88260962..97285754 [GRCh38]
Chr13:88913217..97938008 [GRCh37]
Chr13:87711218..96736009 [NCBI36]
Chr13:13q31.2-32.1
pathogenic
GRCh38/hg38 13q31.2-32.3(chr13:88323009-98888644)x1 copy number loss See cases [RCV000051416] Chr13:88323009..98888644 [GRCh38]
Chr13:88975264..99540898 [GRCh37]
Chr13:87773265..98338899 [NCBI36]
Chr13:13q31.2-32.3
pathogenic
GRCh38/hg38 13q31.3-32.1(chr13:89549510-96657834)x1 copy number loss See cases [RCV000051417] Chr13:89549510..96657834 [GRCh38]
Chr13:90201764..97310088 [GRCh37]
Chr13:88999765..96108089 [NCBI36]
Chr13:13q31.3-32.1
pathogenic
GRCh38/hg38 13q31.3-34(chr13:91366227-114327314)x1 copy number loss See cases [RCV000051418] Chr13:91366227..114327314 [GRCh38]
Chr13:92018481..115085141 [GRCh37]
Chr13:90816482..114110891 [NCBI36]
Chr13:13q31.3-34
pathogenic
GRCh38/hg38 13q31.3-32.1(chr13:93571649-97428965)x1 copy number loss See cases [RCV000051419] Chr13:93571649..97428965 [GRCh38]
Chr13:94223902..98081219 [GRCh37]
Chr13:93021903..96879220 [NCBI36]
Chr13:13q31.3-32.1
pathogenic
GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3 copy number gain See cases [RCV000051179] Chr13:82032938..106082542 [GRCh38]
Chr13:82607073..106734891 [GRCh37]
Chr13:81505074..105532892 [NCBI36]
Chr13:13q31.1-33.2
pathogenic
GRCh38/hg38 13q32.1(chr13:95781492-97429106)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052028]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052028]|See cases [RCV000052028] Chr13:95781492..97429106 [GRCh38]
Chr13:96433746..98081360 [GRCh37]
Chr13:95231747..96879361 [NCBI36]
Chr13:13q32.1
uncertain significance
GRCh38/hg38 13q32.1(chr13:96265059-96974769)x3 copy number gain See cases [RCV000052029] Chr13:96265059..96974769 [GRCh38]
Chr13:96917313..97627023 [GRCh37]
Chr13:95715314..96425024 [NCBI36]
Chr13:13q32.1
uncertain significance
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34
pathogenic
GRCh38/hg38 13q31.3-33.1(chr13:93213623-101537104)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053790]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053790]|See cases [RCV000053790] Chr13:93213623..101537104 [GRCh38]
Chr13:93865876..102189455 [GRCh37]
Chr13:92663877..100987456 [NCBI36]
Chr13:13q31.3-33.1
pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34
pathogenic
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 copy number gain See cases [RCV000053770] Chr13:74345951..114327314 [GRCh38]
Chr13:74920088..115085141 [GRCh37]
Chr13:73818089..114110891 [NCBI36]
Chr13:13q22.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|See cases [RCV000053772] Chr13:80628584..114327173 [GRCh38]
Chr13:81202719..115085141 [GRCh37]
Chr13:80100720..114110750 [NCBI36]
Chr13:13q31.1-34
pathogenic
NM_153456.3(HS6ST3):c.433C>T (p.Arg145Cys) single nucleotide variant Malignant melanoma [RCV000062702] Chr13:96091295 [GRCh38]
Chr13:96743549 [GRCh37]
Chr13:95541550 [NCBI36]
Chr13:13q32.1
not provided
NM_153456.3(HS6ST3):c.707+4747A>T single nucleotide variant Lung cancer [RCV000098486] Chr13:96096316 [GRCh38]
Chr13:96748570 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_153456.3(HS6ST3):c.707+7730T>C single nucleotide variant Lung cancer [RCV000098487] Chr13:96099299 [GRCh38]
Chr13:96751553 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_153456.3(HS6ST3):c.707+51212C>T single nucleotide variant Lung cancer [RCV000098488] Chr13:96142781 [GRCh38]
Chr13:96795035 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_153456.3(HS6ST3):c.707+97637T>C single nucleotide variant Lung cancer [RCV000098489] Chr13:96189206 [GRCh38]
Chr13:96841460 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_153456.3(HS6ST3):c.707+171067G>T single nucleotide variant Lung cancer [RCV000098490] Chr13:96262636 [GRCh38]
Chr13:96914890 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_153456.3(HS6ST3):c.707+194048G>T single nucleotide variant Lung cancer [RCV000098491] Chr13:96285617 [GRCh38]
Chr13:96937871 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_153456.3(HS6ST3):c.707+303331G>A single nucleotide variant Lung cancer [RCV000098492] Chr13:96394900 [GRCh38]
Chr13:97047154 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_153456.3(HS6ST3):c.708-364203G>A single nucleotide variant Lung cancer [RCV000098493] Chr13:96468287 [GRCh38]
Chr13:97120541 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_153456.3(HS6ST3):c.708-335687G>A single nucleotide variant Lung cancer [RCV000098494] Chr13:96496803 [GRCh38]
Chr13:97149057 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_153456.3(HS6ST3):c.708-245800A>T single nucleotide variant Lung cancer [RCV000098495] Chr13:96586690 [GRCh38]
Chr13:97238944 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_153456.3(HS6ST3):c.708-164929G>A single nucleotide variant Lung cancer [RCV000098496] Chr13:96667561 [GRCh38]
Chr13:97319815 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_153456.3(HS6ST3):c.708-159240T>A single nucleotide variant Lung cancer [RCV000098497] Chr13:96673250 [GRCh38]
Chr13:97325504 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_153456.3(HS6ST3):c.708-146335C>T single nucleotide variant Lung cancer [RCV000098498] Chr13:96686155 [GRCh38]
Chr13:97338409 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_153456.3(HS6ST3):c.708-113373A>G single nucleotide variant Lung cancer [RCV000098499] Chr13:96719117 [GRCh38]
Chr13:97371371 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_153456.3(HS6ST3):c.*393T>A single nucleotide variant Lung cancer [RCV000098500] Chr13:96833591 [GRCh38]
Chr13:97485845 [GRCh37]
Chr13:13q32.1
uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3 copy number gain See cases [RCV000137102] Chr13:88937651..114327173 [GRCh38]
Chr13:89589905..115085141 [GRCh37]
Chr13:88387906..114110750 [NCBI36]
Chr13:13q31.2-34
pathogenic
GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1 copy number loss See cases [RCV000136688] Chr13:93345058..109458154 [GRCh38]
Chr13:93997311..110110501 [GRCh37]
Chr13:92795312..108908502 [NCBI36]
Chr13:13q31.3-33.3
pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3 copy number gain See cases [RCV000138742] Chr13:78999318..114327106 [GRCh38]
Chr13:79573453..115085141 [GRCh37]
Chr13:78471454..114110683 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1 copy number loss See cases [RCV000138340] Chr13:86788927..114340331 [GRCh38]
Chr13:87441182..115085141 [GRCh37]
Chr13:86239183..114123908 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q32.1(chr13:95970073-96571702)x1 copy number loss See cases [RCV000138261] Chr13:95970073..96571702 [GRCh38]
Chr13:96622327..97223956 [GRCh37]
Chr13:95420328..96021957 [NCBI36]
Chr13:13q32.1
uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3 copy number gain See cases [RCV000139021] Chr13:95744855..110863818 [GRCh38]
Chr13:96397109..111516165 [GRCh37]
Chr13:95195110..110314166 [NCBI36]
Chr13:13q32.1-34
pathogenic
GRCh38/hg38 13q31.2-32.3(chr13:87944479-99866542)x1 copy number loss See cases [RCV000139047] Chr13:87944479..99866542 [GRCh38]
Chr13:88596734..100518796 [GRCh37]
Chr13:87394735..99316797 [NCBI36]
Chr13:13q31.2-32.3
pathogenic
GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3 copy number gain See cases [RCV000139160] Chr13:96745059..114327106 [GRCh38]
Chr13:97397313..115085141 [GRCh37]
Chr13:96195314..114110683 [NCBI36]
Chr13:13q32.1-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3 copy number gain See cases [RCV000141248] Chr13:78964223..114340331 [GRCh38]
Chr13:79538358..115085141 [GRCh37]
Chr13:78436359..114123908 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3 copy number gain See cases [RCV000141804] Chr13:83288131..114342258 [GRCh38]
Chr13:83862266..115107733 [GRCh37]
Chr13:82760267..114125835 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q32.1(chr13:96029185-96540775)x1 copy number loss See cases [RCV000142554] Chr13:96029185..96540775 [GRCh38]
Chr13:96681439..97193029 [GRCh37]
Chr13:95479440..95991030 [NCBI36]
Chr13:13q32.1
uncertain significance
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1 copy number loss See cases [RCV000240161] Chr13:89796110..115083342 [GRCh37]
Chr13:13q31.2-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q32.1(chr13:96396846-96651749)x1 copy number loss Premature ovarian failure [RCV000225206] Chr13:96396846..96651749 [GRCh38]
Chr13:97049100..97304003 [GRCh37]
Chr13:13q32.1
benign
GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1 copy number loss See cases [RCV000449272] Chr13:53551300..109850651 [GRCh37]
Chr13:13q14.3-33.3
pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 copy number gain See cases [RCV000449118] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q32.1-32.3(chr13:95677119-100521192)x1 copy number loss See cases [RCV000447261] Chr13:95677119..100521192 [GRCh37]
Chr13:13q32.1-32.3
uncertain significance
GRCh37/hg19 13q31.3-34(chr13:94269729-115107733)x3 copy number gain See cases [RCV000447545] Chr13:94269729..115107733 [GRCh37]
Chr13:13q31.3-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3 copy number gain See cases [RCV000447429] Chr13:82221361..115092569 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) copy number gain See cases [RCV000510722] Chr13:56431743..115107733 [GRCh37]
Chr13:13q21.1-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.1-33.1(chr13:81851091-102864674)x1 copy number loss See cases [RCV000448988] Chr13:81851091..102864674 [GRCh37]
Chr13:13q31.1-33.1
pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)x1 copy number loss See cases [RCV000448405] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1 copy number loss See cases [RCV000510535] Chr13:94474530..115107733 [GRCh37]
Chr13:13q31.3-34
pathogenic
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 copy number gain See cases [RCV000510281] Chr13:71871468..115107733 [GRCh37]
Chr13:13q21.33-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3 copy number gain See cases [RCV000510566] Chr13:80058840..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.1-33.3(chr13:80572498-108719528)x1 copy number loss See cases [RCV000510890] Chr13:80572498..108719528 [GRCh37]
Chr13:13q31.1-33.3
pathogenic
GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1 copy number loss See cases [RCV000512257] Chr13:96586481..115107733 [GRCh37]
Chr13:13q32.1-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3 copy number gain See cases [RCV000512605] Chr13:83435292..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3 copy number gain See cases [RCV000512242] Chr13:85176519..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q31.3-33.3(chr13:94703767-109731879)x1 copy number loss not provided [RCV000683570] Chr13:94703767..109731879 [GRCh37]
Chr13:13q31.3-33.3
pathogenic
GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3 copy number gain not provided [RCV000683571] Chr13:78590089..115107733 [GRCh37]
Chr13:13q22.3-34
pathogenic
GRCh37/hg19 13q31.3-32.1(chr13:93348248-96975820)x3 copy number gain not provided [RCV000683560] Chr13:93348248..96975820 [GRCh37]
Chr13:13q31.3-32.1
uncertain significance
GRCh37/hg19 13q32.1(chr13:96664236-97672631)x1 copy number loss not provided [RCV000683541] Chr13:96664236..97672631 [GRCh37]
Chr13:13q32.1
uncertain significance
GRCh37/hg19 13q32.1(chr13:96487525-97295519)x4 copy number gain not provided [RCV000683536] Chr13:96487525..97295519 [GRCh37]
Chr13:13q32.1
uncertain significance
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q32.1(chr13:96301936-96807771)x1 copy number loss not provided [RCV000738338] Chr13:96301936..96807771 [GRCh37]
Chr13:13q32.1
benign
GRCh37/hg19 13q32.1(chr13:96496858-96743177)x3 copy number gain not provided [RCV000738339] Chr13:96496858..96743177 [GRCh37]
Chr13:13q32.1
benign
GRCh37/hg19 13q32.1(chr13:96742250-96743232)x1 copy number loss not provided [RCV000738340] Chr13:96742250..96743232 [GRCh37]
Chr13:13q32.1
benign
GRCh37/hg19 13q32.1(chr13:96742334-96743232)x1 copy number loss not provided [RCV000738341] Chr13:96742334..96743232 [GRCh37]
Chr13:13q32.1
benign
GRCh37/hg19 13q32.1(chr13:96915624-96932945)x1 copy number loss not provided [RCV000738342] Chr13:96915624..96932945 [GRCh37]
Chr13:13q32.1
benign
GRCh37/hg19 13q32.1(chr13:96921643-96925553)x0 copy number loss not provided [RCV000738343] Chr13:96921643..96925553 [GRCh37]
Chr13:13q32.1
benign
GRCh37/hg19 13q32.1(chr13:97136596-97231270)x1 copy number loss not provided [RCV000738344] Chr13:97136596..97231270 [GRCh37]
Chr13:13q32.1
benign
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3 copy number gain not provided [RCV000847710] Chr13:94849303..115107733 [GRCh37]
Chr13:13q31.3-34
uncertain significance
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 copy number gain not provided [RCV000848025] Chr13:61775567..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 copy number loss not provided [RCV001006567] Chr13:53262013..115107733 [GRCh37]
Chr13:13q14.3-34
pathogenic
GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1 copy number loss not provided [RCV001006591] Chr13:96895656..115107733 [GRCh37]
Chr13:13q32.1-34
pathogenic
GRCh37/hg19 13q32.1(chr13:96664619-97662040)x1 copy number loss not provided [RCV000849242] Chr13:96664619..97662040 [GRCh37]
Chr13:13q32.1
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.3-32.1(chr13:94896219-96993668)x3 copy number gain not provided [RCV001006588] Chr13:94896219..96993668 [GRCh37]
Chr13:13q31.3-32.1
uncertain significance
GRCh37/hg19 13q32.1-33.2(chr13:96240346-106103782)x1 copy number loss not provided [RCV001006589] Chr13:96240346..106103782 [GRCh37]
Chr13:13q32.1-33.2
pathogenic
GRCh37/hg19 13q32.1(chr13:96648461-97090191)x3 copy number gain not provided [RCV001006590] Chr13:96648461..97090191 [GRCh37]
Chr13:13q32.1
uncertain significance
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34
pathogenic
Single allele deletion Anal atresia, hypospadias, and penoscrotal inversion [RCV001391677] Chr13:94679977..111536145 [GRCh37]
Chr13:13q31.3-34
pathogenic
NC_000013.10:g.(?_92002837)_(103343314_?)del deletion Holoprosencephaly 5 [RCV001388033] Chr13:92002837..103343314 [GRCh37]
Chr13:13q31.3-33.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19134 AgrOrtholog
COSMIC HS6ST3 COSMIC
Ensembl Genes ENSG00000185352 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000365895 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000483366 UniProtKB/TrEMBL
Ensembl Transcript ENST00000376705 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000620595 UniProtKB/TrEMBL
GTEx ENSG00000185352 GTEx
HGNC ID HGNC:19134 ENTREZGENE
Human Proteome Map HS6ST3 Human Proteome Map
InterPro Heparan_SO4-6-sulfoTrfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot
  Sulfotransferase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:266722 UniProtKB/Swiss-Prot
NCBI Gene 266722 ENTREZGENE
OMIM 609401 OMIM
PANTHER PTHR12812 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Sulfotransfer_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134879312 PharmGKB
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot
UniProt A0A087X0G1_HUMAN UniProtKB/TrEMBL
  H6ST3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q5W0L0 UniProtKB/Swiss-Prot
  Q68CW6 UniProtKB/Swiss-Prot