CHSY3 (chondroitin sulfate synthase 3) - Rat Genome Database

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Gene: CHSY3 (chondroitin sulfate synthase 3) Homo sapiens
Analyze
Symbol: CHSY3
Name: chondroitin sulfate synthase 3
RGD ID: 1603860
HGNC Page HGNC
Description: Predicted to have glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity. Predicted to be involved in chondroitin sulfate biosynthetic process. Predicted to localize to Golgi membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: carbohydrate synthase 2; chondroitin glucuronyltransferase 3; chondroitin synthase 2; chondroitin synthase-2; chSy-2; CHSY2; CSS3; glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase II; N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 3; N-acetylgalactosaminyltransferase 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 Ensembl5129,904,465 - 130,186,634 (+)EnsemblGRCh38hg38GRCh38
GRCh385129,903,384 - 130,186,637 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh375129,240,158 - 129,522,327 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365129,268,422 - 129,550,226 (+)NCBINCBI36hg18NCBI36
Celera5125,370,892 - 125,652,732 (+)NCBI
Cytogenetic Map5q23.3NCBI
HuRef5124,432,045 - 124,713,660 (+)NCBIHuRef
CHM1_15128,673,143 - 128,955,624 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:12477932   PMID:12907687   PMID:17081983   PMID:17253960   PMID:21468578   PMID:21873635   PMID:25609649   PMID:26186194   PMID:28514442   PMID:29507755   PMID:33089528  


Genomics

Comparative Map Data
CHSY3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl5129,904,465 - 130,186,634 (+)EnsemblGRCh38hg38GRCh38
GRCh385129,903,384 - 130,186,637 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh375129,240,158 - 129,522,327 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365129,268,422 - 129,550,226 (+)NCBINCBI36hg18NCBI36
Celera5125,370,892 - 125,652,732 (+)NCBI
Cytogenetic Map5q23.3NCBI
HuRef5124,432,045 - 124,713,660 (+)NCBIHuRef
CHM1_15128,673,143 - 128,955,624 (+)NCBICHM1_1
Chsy3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391859,308,412 - 59,544,408 (+)NCBIGRCm39mm39
GRCm39 Ensembl1859,308,473 - 59,669,071 (+)Ensembl
GRCm381859,175,340 - 59,411,336 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1859,175,401 - 59,535,999 (+)EnsemblGRCm38mm10GRCm38
MGSCv371859,334,994 - 59,570,990 (+)NCBIGRCm37mm9NCBIm37
MGSCv361859,300,709 - 59,536,705 (+)NCBImm8
Celera1860,481,285 - 60,714,414 (+)NCBICelera
Cytogenetic Map18D3NCBI
Chsy3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21852,644,356 - 52,901,257 (+)NCBI
Rnor_6.0 Ensembl1854,243,949 - 54,496,585 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01854,243,626 - 54,497,475 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01853,477,339 - 53,731,655 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41854,963,517 - 55,273,226 (+)NCBIRGSC3.4rn4RGSC3.4
Celera1850,748,557 - 51,001,455 (+)NCBICelera
Cytogenetic Map18q12.1NCBI
Chsy3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554152,748,777 - 2,991,782 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554152,748,776 - 2,994,041 (+)NCBIChiLan1.0ChiLan1.0
CHSY3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.15131,491,059 - 131,772,060 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v05125,319,738 - 125,601,102 (+)NCBIMhudiblu_PPA_v0panPan3
CHSY3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11118,621,196 - 18,855,018 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1118,620,781 - 18,854,177 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1117,420,827 - 17,654,322 (+)NCBI
ROS_Cfam_1.01119,375,694 - 19,642,226 (+)NCBI
UMICH_Zoey_3.11118,100,068 - 18,370,955 (+)NCBI
UNSW_CanFamBas_1.01117,935,119 - 18,202,405 (+)NCBI
UU_Cfam_GSD_1.01118,549,166 - 18,816,845 (+)NCBI
Chsy3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213141,374,905 - 141,626,875 (+)NCBI
SpeTri2.0NW_0049365042,948,878 - 2,952,518 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHSY3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2132,535,360 - 132,801,187 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12132,536,085 - 132,803,476 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22137,866,436 - 138,011,589 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CHSY3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12332,803,714 - 33,088,720 (+)NCBI
Vero_WHO_p1.0NW_02366603444,921,259 - 45,206,662 (-)NCBI
Chsy3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477411,173,221 - 11,466,657 (-)NCBI

Position Markers
D5S2534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375129,488,945 - 129,489,117UniSTSGRCh37
Build 365129,516,844 - 129,517,016RGDNCBI36
Celera5125,619,321 - 125,619,493RGD
Cytogenetic Map5q23.3UniSTS
HuRef5124,680,252 - 124,680,424UniSTS
Stanford-G3 RH Map54920.0UniSTS
NCBI RH Map5839.9UniSTS
RH94280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375129,254,061 - 129,254,227UniSTSGRCh37
Build 365129,281,960 - 129,282,126RGDNCBI36
Celera5125,384,430 - 125,384,596RGD
Cytogenetic Map5q23.3UniSTS
HuRef5124,445,453 - 124,445,619UniSTS
GeneMap99-GB4 RH Map5509.3UniSTS
RH98414  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375129,239,131 - 129,239,274UniSTSGRCh37
Build 365129,267,030 - 129,267,173RGDNCBI36
Celera5125,369,500 - 125,369,643RGD
Cytogenetic Map5q23.3UniSTS
HuRef5124,430,651 - 124,430,794UniSTS
GeneMap99-GB4 RH Map5509.47UniSTS
RH103740  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375129,390,775 - 129,390,954UniSTSGRCh37
Build 365129,418,674 - 129,418,853RGDNCBI36
Celera5125,521,136 - 125,521,315RGD
Cytogenetic Map5q23.3UniSTS
HuRef5124,582,063 - 124,582,242UniSTS
SHGC-83081  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375129,419,445 - 129,419,789UniSTSGRCh37
Build 365129,447,344 - 129,447,688RGDNCBI36
Celera5125,549,813 - 125,550,157RGD
Cytogenetic Map5q23.3UniSTS
HuRef5124,610,741 - 124,611,085UniSTS
TNG Radiation Hybrid Map576973.0UniSTS
D5S2208E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375129,368,159 - 129,368,301UniSTSGRCh37
Build 365129,396,058 - 129,396,200RGDNCBI36
Celera5125,498,513 - 125,498,655RGD
Cytogenetic Map5q23.3UniSTS
HuRef5124,559,446 - 124,559,588UniSTS
SHGC-105699  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375129,401,485 - 129,401,786UniSTSGRCh37
Build 365129,429,384 - 129,429,685RGDNCBI36
Celera5125,531,845 - 125,532,146RGD
Cytogenetic Map5q23.3UniSTS
HuRef5124,592,773 - 124,593,074UniSTS
TNG Radiation Hybrid Map576991.0UniSTS
SHGC-78110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375129,405,626 - 129,405,850UniSTSGRCh37
Build 365129,433,525 - 129,433,749RGDNCBI36
Celera5125,535,986 - 125,536,210RGD
Cytogenetic Map5q23.3UniSTS
HuRef5124,596,914 - 124,597,138UniSTS
TNG Radiation Hybrid Map576982.0UniSTS
G16898  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375129,459,930 - 129,460,119UniSTSGRCh37
Build 365129,487,829 - 129,488,018RGDNCBI36
Celera5125,590,296 - 125,590,485RGD
Cytogenetic Map5q23.3UniSTS
HuRef5124,651,222 - 124,651,411UniSTS
D5S2844  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375129,306,025 - 129,306,291UniSTSGRCh37
Build 365129,333,924 - 129,334,190RGDNCBI36
Celera5125,436,399 - 125,436,661RGD
Cytogenetic Map5q23.3UniSTS
HuRef5124,497,424 - 124,497,686UniSTS
L29979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375129,325,994 - 129,326,465UniSTSGRCh37
Build 365129,353,893 - 129,354,364RGDNCBI36
Celera5125,456,359 - 125,456,834RGD
Cytogenetic Map5q23.3UniSTS
HuRef5124,517,391 - 124,517,866UniSTS
CSS3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375129,521,107 - 129,521,218UniSTSGRCh37
Celera5125,651,512 - 125,651,623UniSTS
HuRef5124,712,440 - 124,712,551UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:470
Count of miRNA genes:396
Interacting mature miRNAs:431
Transcripts:ENST00000305031, ENST00000507545
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 2 1040 3 1 9 1 966 7 45 12 42 23 1 323 632 1
Low 1714 821 1210 482 426 368 3122 1483 2512 235 1150 1478 126 1 881 1927 2
Below cutoff 661 810 502 135 686 91 266 686 1126 161 243 67 45 229 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_175856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB086062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB175496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ504664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ578034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ632296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ862728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY726604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000305031   ⟹   ENSP00000302629
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5129,904,465 - 130,186,634 (+)Ensembl
RefSeq Acc Id: ENST00000507545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5129,908,087 - 130,184,502 (+)Ensembl
RefSeq Acc Id: NM_175856   ⟹   NP_787052
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385129,904,465 - 130,186,634 (+)NCBI
GRCh375129,240,389 - 129,522,327 (+)NCBI
Build 365129,268,422 - 129,550,226 (+)NCBI Archive
Celera5125,370,892 - 125,652,732 (+)RGD
HuRef5124,432,045 - 124,713,660 (+)ENTREZGENE
CHM1_15128,673,143 - 128,955,624 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005271982   ⟹   XP_005272039
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385129,904,473 - 130,141,971 (+)NCBI
GRCh375129,240,389 - 129,522,327 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005271983   ⟹   XP_005272040
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385129,904,473 - 130,005,204 (+)NCBI
GRCh375129,240,389 - 129,522,327 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543363   ⟹   XP_011541665
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385129,903,384 - 130,186,637 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543364   ⟹   XP_011541666
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385130,182,465 - 130,186,637 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543365   ⟹   XP_011541667
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385129,904,473 - 130,184,502 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009434   ⟹   XP_016864923
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385130,042,187 - 130,186,637 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009435   ⟹   XP_016864924
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385129,904,473 - 130,141,568 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_787052   ⟸   NM_175856
- UniProtKB: Q70JA7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005272039   ⟸   XM_005271982
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_005272040   ⟸   XM_005271983
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011541665   ⟸   XM_011543363
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011541667   ⟸   XM_011543365
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011541666   ⟸   XM_011543364
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016864924   ⟸   XM_017009435
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016864923   ⟸   XM_017009434
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000302629   ⟸   ENST00000305031

Promoters
RGD ID:6870452
Promoter ID:EPDNEW_H8391
Type:initiation region
Name:CHSY3_2
Description:chondroitin sulfate synthase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8392  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385129,904,074 - 129,904,134EPDNEW
RGD ID:6870454
Promoter ID:EPDNEW_H8392
Type:initiation region
Name:CHSY3_1
Description:chondroitin sulfate synthase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8391  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385129,904,465 - 129,904,525EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV001381154]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1 copy number loss See cases [RCV000052109] Chr5:126438406..132873967 [GRCh38]
Chr5:125774098..132209659 [GRCh37]
Chr5:125801997..132237558 [NCBI36]
Chr5:5q23.2-31.1
pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2
pathogenic
GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1 copy number loss See cases [RCV000053525] Chr5:116677122..132686163 [GRCh38]
Chr5:116012818..132021855 [GRCh37]
Chr5:116040717..132049754 [NCBI36]
Chr5:5q23.1-31.1
pathogenic
NM_175856.4(CHSY3):c.1086+77222T>C single nucleotide variant Lung cancer [RCV000095309] Chr5:129985582 [GRCh38]
Chr5:129321275 [GRCh37]
Chr5:5q23.3
uncertain significance
GRCh38/hg38 5q23.3(chr5:130147444-130290374)x3 copy number gain See cases [RCV000135225] Chr5:130147444..130290374 [GRCh38]
Chr5:129483137..129626067 [GRCh37]
Chr5:129511036..129653966 [NCBI36]
Chr5:5q23.3
likely benign
GRCh38/hg38 5q23.3(chr5:129444185-129973967)x3 copy number gain See cases [RCV000136882] Chr5:129444185..129973967 [GRCh38]
Chr5:128779878..129309660 [GRCh37]
Chr5:128807777..129337559 [NCBI36]
Chr5:5q23.3
likely benign|uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1 copy number loss See cases [RCV000139235] Chr5:110687442..130103838 [GRCh38]
Chr5:110023143..129439531 [GRCh37]
Chr5:110051042..129467430 [NCBI36]
Chr5:5q22.1-23.3
pathogenic|uncertain significance
GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1 copy number loss See cases [RCV000143746] Chr5:91411708..131319563 [GRCh38]
Chr5:90707525..130655256 [GRCh37]
Chr5:90743281..130683155 [NCBI36]
Chr5:5q14.3-31.1
pathogenic
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1 copy number loss not provided [RCV000762739] Chr5:126377719..136270989 [GRCh37]
Chr5:5q23.2-31.2
likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3 copy number gain not provided [RCV000849289] Chr5:89949118..129317455 [GRCh37]
Chr5:5q14.3-23.3
pathogenic
GRCh37/hg19 5q23.3(chr5:128748553-129357269)x4 copy number gain not provided [RCV001005735] Chr5:128748553..129357269 [GRCh37]
Chr5:5q23.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24293 AgrOrtholog
COSMIC CHSY3 COSMIC
Ensembl Genes ENSG00000198108 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000302629 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000305031 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.90.550.10 UniProtKB/Swiss-Prot
GTEx ENSG00000198108 GTEx
HGNC ID HGNC:24293 ENTREZGENE
Human Proteome Map CHSY3 Human Proteome Map
InterPro Chond_GalNAc UniProtKB/Swiss-Prot
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot
KEGG Report hsa:337876 UniProtKB/Swiss-Prot
NCBI Gene 337876 ENTREZGENE
OMIM 609963 OMIM
Pfam CHGN UniProtKB/Swiss-Prot
PharmGKB PA162382259 PharmGKB
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot
UniProt CHSS3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2RP97 UniProtKB/Swiss-Prot
  Q76L22 UniProtKB/Swiss-Prot
  Q86Y52 UniProtKB/Swiss-Prot