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:24293
Description: Predicted to enable glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity. Predicted to be involved in chondroitin sulfate biosynthetic process. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously 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 Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385129,903,979 - 130,186,634 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5129,904,465 - 130,186,634 (+)EnsemblGRCh38hg38GRCh38
GRCh375129,240,158 - 129,522,327 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365129,268,422 - 129,550,226 (+)NCBINCBI36Build 36hg18NCBI36
Celera5125,370,892 - 125,652,732 (+)NCBICelera
Cytogenetic Map5q23.3NCBI
HuRef5124,432,045 - 124,713,660 (+)NCBIHuRef
CHM1_15128,673,143 - 128,955,624 (+)NCBICHM1_1
T2T-CHM13v2.05130,422,787 - 130,705,475 (+)NCBIT2T-CHM13v2.0
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 Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
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   PMID:33390789  
PMID:33961781   PMID:35696571   PMID:37461041   PMID:38812506  


Genomics

Comparative Map Data
CHSY3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385129,903,979 - 130,186,634 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5129,904,465 - 130,186,634 (+)EnsemblGRCh38hg38GRCh38
GRCh375129,240,158 - 129,522,327 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365129,268,422 - 129,550,226 (+)NCBINCBI36Build 36hg18NCBI36
Celera5125,370,892 - 125,652,732 (+)NCBICelera
Cytogenetic Map5q23.3NCBI
HuRef5124,432,045 - 124,713,660 (+)NCBIHuRef
CHM1_15128,673,143 - 128,955,624 (+)NCBICHM1_1
T2T-CHM13v2.05130,422,787 - 130,705,475 (+)NCBIT2T-CHM13v2.0
Chsy3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391859,308,412 - 59,544,408 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1859,308,473 - 59,669,071 (+)EnsemblGRCm39 Ensembl
GRCm381859,175,340 - 59,411,336 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1859,175,401 - 59,535,999 (+)EnsemblGRCm38mm10GRCm38
MGSCv371859,334,994 - 59,570,990 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361859,300,709 - 59,536,705 (+)NCBIMGSCv36mm8
Celera1860,481,285 - 60,714,414 (+)NCBICelera
Cytogenetic Map18D3NCBI
cM Map1833.93NCBI
Chsy3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81854,842,260 - 55,096,008 (+)NCBIGRCr8
mRatBN7.21852,644,356 - 52,901,257 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1852,644,461 - 52,898,098 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01854,243,626 - 54,497,475 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1854,243,949 - 54,496,585 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01853,477,339 - 53,731,655 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41854,963,517 - 55,273,226 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v24125,214,859 - 125,496,222 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15123,354,421 - 123,641,132 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05125,319,738 - 125,601,102 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15131,491,059 - 131,772,060 (+)NCBIpanpan1.1PanPan1.1panPan2
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 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01119,375,694 - 19,642,226 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1119,375,694 - 19,641,379 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11118,100,068 - 18,370,955 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01117,935,119 - 18,202,405 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01118,549,166 - 18,816,845 (+)NCBIUU_Cfam_GSD_1.0
Chsy3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213141,374,905 - 141,626,875 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365042,949,014 - 3,200,006 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365042,948,878 - 2,952,518 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHSY3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2132,535,984 - 132,802,188 (+)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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12332,803,714 - 33,088,720 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603444,921,259 - 45,206,662 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Chsy3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477411,174,047 - 11,466,657 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477411,173,221 - 11,466,657 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CHSY3
70 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV004561496]|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
NM_175856.5(CHSY3):c.2188C>G (p.Arg730Gly) single nucleotide variant not specified [RCV004310758] Chr5:130185330 [GRCh38]
Chr5:129521023 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1879C>G (p.Leu627Val) single nucleotide variant not specified [RCV004314823] Chr5:130185021 [GRCh38]
Chr5:129520714 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.2575G>A (p.Ala859Thr) single nucleotide variant not specified [RCV004299420] Chr5:130185717 [GRCh38]
Chr5:129521410 [GRCh37]
Chr5:5q23.3
uncertain significance
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 5q23.3-31.1(chr5:127800418-134002686) copy number loss Houge-Janssens syndrome 3 [RCV003236718] Chr5:127800418..134002686 [GRCh37]
Chr5:5q23.3-31.1
pathogenic
GRCh37/hg19 5q23.3(chr5:128748553-129357269)x4 copy number gain not provided [RCV001005735] Chr5:128748553..129357269 [GRCh37]
Chr5:5q23.3
likely benign|uncertain significance
NM_175856.5(CHSY3):c.179A>T (p.Gln60Leu) single nucleotide variant not specified [RCV004610587] Chr5:129905008 [GRCh38]
Chr5:129240701 [GRCh37]
Chr5:5q23.3
uncertain significance
GRCh37/hg19 5q23.3(chr5:129338586-129857014) copy number loss not specified [RCV002053524] Chr5:129338586..129857014 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1458C>A (p.Ser486Arg) single nucleotide variant not specified [RCV004323098] Chr5:130184600 [GRCh38]
Chr5:129520293 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1322A>C (p.Lys441Thr) single nucleotide variant not specified [RCV004325028] Chr5:130184464 [GRCh38]
Chr5:129520157 [GRCh37]
Chr5:5q23.3
uncertain significance
GRCh37/hg19 5q23.3(chr5:128717761-129797845)x4 copy number gain not provided [RCV002475581] Chr5:128717761..129797845 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.590G>A (p.Arg197His) single nucleotide variant not specified [RCV004227765] Chr5:129905419 [GRCh38]
Chr5:129241112 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.479G>C (p.Gly160Ala) single nucleotide variant not specified [RCV004226668] Chr5:129905308 [GRCh38]
Chr5:129241001 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1386A>C (p.Glu462Asp) single nucleotide variant not specified [RCV004204876] Chr5:130184528 [GRCh38]
Chr5:129520221 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.197C>T (p.Pro66Leu) single nucleotide variant not specified [RCV004204106] Chr5:129905026 [GRCh38]
Chr5:129240719 [GRCh37]
Chr5:5q23.3
likely benign
NM_175856.5(CHSY3):c.479G>A (p.Gly160Glu) single nucleotide variant not specified [RCV004196137] Chr5:129905308 [GRCh38]
Chr5:129241001 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.2405G>T (p.Gly802Val) single nucleotide variant not specified [RCV004207277] Chr5:130185547 [GRCh38]
Chr5:129521240 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1045G>A (p.Val349Ile) single nucleotide variant not specified [RCV004103600] Chr5:129908319 [GRCh38]
Chr5:129244012 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.466G>C (p.Gly156Arg) single nucleotide variant not specified [RCV004235035] Chr5:129905295 [GRCh38]
Chr5:129240988 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.2396C>T (p.Ser799Leu) single nucleotide variant not specified [RCV004194586] Chr5:130185538 [GRCh38]
Chr5:129521231 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.205C>G (p.Arg69Gly) single nucleotide variant not specified [RCV004233582] Chr5:129905034 [GRCh38]
Chr5:129240727 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1847A>C (p.His616Pro) single nucleotide variant not specified [RCV004179722] Chr5:130184989 [GRCh38]
Chr5:129520682 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1093C>A (p.Gln365Lys) single nucleotide variant not specified [RCV004171078] Chr5:130184235 [GRCh38]
Chr5:129519928 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.752T>C (p.Leu251Pro) single nucleotide variant not specified [RCV004190100] Chr5:129905581 [GRCh38]
Chr5:129241274 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1000A>G (p.Arg334Gly) single nucleotide variant not specified [RCV004074302] Chr5:129908274 [GRCh38]
Chr5:129243967 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1737T>G (p.Asp579Glu) single nucleotide variant not specified [RCV004237416] Chr5:130184879 [GRCh38]
Chr5:129520572 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.511G>C (p.Asp171His) single nucleotide variant not specified [RCV004125486] Chr5:129905340 [GRCh38]
Chr5:129241033 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1932G>T (p.Met644Ile) single nucleotide variant not specified [RCV004215551] Chr5:130185074 [GRCh38]
Chr5:129520767 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.2306C>T (p.Ser769Leu) single nucleotide variant not specified [RCV004134036] Chr5:130185448 [GRCh38]
Chr5:129521141 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1490A>G (p.Asp497Gly) single nucleotide variant not specified [RCV004175871] Chr5:130184632 [GRCh38]
Chr5:129520325 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.212G>C (p.Arg71Pro) single nucleotide variant not specified [RCV004176706] Chr5:129905041 [GRCh38]
Chr5:129240734 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1495G>A (p.Val499Ile) single nucleotide variant not specified [RCV004202105] Chr5:130184637 [GRCh38]
Chr5:129520330 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.985A>G (p.Ile329Val) single nucleotide variant not specified [RCV004245152] Chr5:129908259 [GRCh38]
Chr5:129243952 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.242A>G (p.Gln81Arg) single nucleotide variant not specified [RCV004229387] Chr5:129905071 [GRCh38]
Chr5:129240764 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.433C>T (p.Arg145Trp) single nucleotide variant not specified [RCV004235134] Chr5:129905262 [GRCh38]
Chr5:129240955 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.2473C>G (p.Gln825Glu) single nucleotide variant not specified [RCV004170388] Chr5:130185615 [GRCh38]
Chr5:129521308 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1760T>A (p.Ile587Asn) single nucleotide variant not specified [RCV004119103] Chr5:130184902 [GRCh38]
Chr5:129520595 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1873G>C (p.Val625Leu) single nucleotide variant not specified [RCV004175231] Chr5:130185015 [GRCh38]
Chr5:129520708 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.164C>A (p.Pro55His) single nucleotide variant not specified [RCV004132027] Chr5:129904993 [GRCh38]
Chr5:129240686 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.2377G>A (p.Ala793Thr) single nucleotide variant not specified [RCV004116242] Chr5:130185519 [GRCh38]
Chr5:129521212 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.768G>T (p.Trp256Cys) single nucleotide variant not specified [RCV004131688] Chr5:129905597 [GRCh38]
Chr5:129241290 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1724C>T (p.Thr575Ile) single nucleotide variant not specified [RCV004151927] Chr5:130184866 [GRCh38]
Chr5:129520559 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1171A>G (p.Ile391Val) single nucleotide variant not specified [RCV004096333] Chr5:130184313 [GRCh38]
Chr5:129520006 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.2027G>A (p.Gly676Glu) single nucleotide variant not specified [RCV004081574] Chr5:130185169 [GRCh38]
Chr5:129520862 [GRCh37]
Chr5:5q23.3
likely benign
NM_175856.5(CHSY3):c.421G>A (p.Ala141Thr) single nucleotide variant not specified [RCV004224544] Chr5:129905250 [GRCh38]
Chr5:129240943 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1624C>T (p.Leu542Phe) single nucleotide variant not specified [RCV004266227] Chr5:130184766 [GRCh38]
Chr5:129520459 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.989G>T (p.Gly330Val) single nucleotide variant not specified [RCV004248395] Chr5:129908263 [GRCh38]
Chr5:129243956 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1933T>C (p.Cys645Arg) single nucleotide variant not specified [RCV004258097] Chr5:130185075 [GRCh38]
Chr5:129520768 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1121A>G (p.Asn374Ser) single nucleotide variant not specified [RCV004272232] Chr5:130184263 [GRCh38]
Chr5:129519956 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.280G>A (p.Gly94Arg) single nucleotide variant not specified [RCV004271134] Chr5:129905109 [GRCh38]
Chr5:129240802 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1561G>A (p.Glu521Lys) single nucleotide variant not specified [RCV004358849] Chr5:130184703 [GRCh38]
Chr5:129520396 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.2566A>C (p.Ser856Arg) single nucleotide variant not specified [RCV004345553] Chr5:130185708 [GRCh38]
Chr5:129521401 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.2204C>A (p.Thr735Lys) single nucleotide variant not specified [RCV004357540] Chr5:130185346 [GRCh38]
Chr5:129521039 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1990G>A (p.Gly664Ser) single nucleotide variant not specified [RCV004357512] Chr5:130185132 [GRCh38]
Chr5:129520825 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.158C>T (p.Ala53Val) single nucleotide variant not specified [RCV004351575] Chr5:129904987 [GRCh38]
Chr5:129240680 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.2090G>T (p.Arg697Ile) single nucleotide variant not specified [RCV004357854] Chr5:130185232 [GRCh38]
Chr5:129520925 [GRCh37]
Chr5:5q23.3
uncertain significance
GRCh37/hg19 5q23.3(chr5:129471317-129700483)x3 copy number gain not provided [RCV003484626] Chr5:129471317..129700483 [GRCh37]
Chr5:5q23.3
uncertain significance
GRCh37/hg19 5q23.3(chr5:127909723-130536409)x3 copy number gain not provided [RCV003484625] Chr5:127909723..130536409 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1885G>A (p.Gly629Arg) single nucleotide variant not specified [RCV004441656] Chr5:130185027 [GRCh38]
Chr5:129520720 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.2065A>C (p.Ile689Leu) single nucleotide variant not specified [RCV004441658] Chr5:130185207 [GRCh38]
Chr5:129520900 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.650C>G (p.Pro217Arg) single nucleotide variant not specified [RCV004441662] Chr5:129905479 [GRCh38]
Chr5:129241172 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1124G>A (p.Arg375Gln) single nucleotide variant not specified [RCV004441650] Chr5:130184266 [GRCh38]
Chr5:129519959 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1507A>G (p.Met503Val) single nucleotide variant not specified [RCV004441653] Chr5:130184649 [GRCh38]
Chr5:129520342 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1519A>G (p.Asn507Asp) single nucleotide variant not specified [RCV004441654] Chr5:130184661 [GRCh38]
Chr5:129520354 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.2574C>T (p.Phe858=) single nucleotide variant not specified [RCV004441660] Chr5:130185716 [GRCh38]
Chr5:129521409 [GRCh37]
Chr5:5q23.3
likely benign
NM_175856.5(CHSY3):c.674C>G (p.Ala225Gly) single nucleotide variant not specified [RCV004441663] Chr5:129905503 [GRCh38]
Chr5:129241196 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.854A>T (p.Tyr285Phe) single nucleotide variant not specified [RCV004441664] Chr5:129908128 [GRCh38]
Chr5:129243821 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1467C>G (p.Ser489Arg) single nucleotide variant not specified [RCV004441652] Chr5:130184609 [GRCh38]
Chr5:129520302 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1580G>T (p.Arg527Leu) single nucleotide variant not specified [RCV004441655] Chr5:130184722 [GRCh38]
Chr5:129520415 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.2431T>C (p.Tyr811His) single nucleotide variant not specified [RCV004441659] Chr5:130185573 [GRCh38]
Chr5:129521266 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.437G>C (p.Arg146Thr) single nucleotide variant not specified [RCV004441661] Chr5:129905266 [GRCh38]
Chr5:129240959 [GRCh37]
Chr5:5q23.3
uncertain significance
GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1 copy number loss not provided [RCV004577463] Chr5:124864529..134720575 [GRCh37]
Chr5:5q23.2-31.1
pathogenic
NM_175856.5(CHSY3):c.2393C>T (p.Thr798Ile) single nucleotide variant not specified [RCV004610586] Chr5:130185535 [GRCh38]
Chr5:129521228 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.281G>A (p.Gly94Glu) single nucleotide variant not specified [RCV004610585] Chr5:129905110 [GRCh38]
Chr5:129240803 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1814C>A (p.Ser605Tyr) single nucleotide variant not specified [RCV004610591] Chr5:130184956 [GRCh38]
Chr5:129520649 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1544G>A (p.Arg515Gln) single nucleotide variant not specified [RCV004610588] Chr5:130184686 [GRCh38]
Chr5:129520379 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1972C>A (p.Leu658Ile) single nucleotide variant not specified [RCV004610590] Chr5:130185114 [GRCh38]
Chr5:129520807 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_175856.5(CHSY3):c.1890G>T (p.Arg630Ser) single nucleotide variant not specified [RCV004610589] Chr5:130185032 [GRCh38]
Chr5:129520725 [GRCh37]
Chr5:5q23.3
uncertain significance
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407173893GWAS822869_HHeadache QTL GWAS822869 (human)0.0000001Headache5130076073130076074Human
406962868GWAS611844_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS611844 (human)2e-08severe acute respiratory syndrome, COVID-195129914403129914404Human
407271907GWAS920883_Hbody height QTL GWAS920883 (human)2e-18body height (VT:0001253)body height (CMO:0000106)5129921399129921400Human
406963990GWAS612966_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS612966 (human)2e-15severe acute respiratory syndrome, COVID-195129993000129993001Human
407204242GWAS853218_Hblood protein measurement QTL GWAS853218 (human)7e-13blood protein measurementblood protein measurement (CMO:0000028)5130015806130015807Human
406971833GWAS620809_Hsmoking initiation QTL GWAS620809 (human)4e-09smoking initiation5130112085130112086Human
407383217GWAS1032193_Hobsolete_red blood cell distribution width QTL GWAS1032193 (human)9e-10obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)5130100973130100974Human
407306538GWAS955514_Hlean body mass QTL GWAS955514 (human)7e-09body lean mass (VT:0010483)total body lean mass (CMO:0003950)5130131471130131472Human
407000493GWAS649469_Hvital capacity QTL GWAS649469 (human)1e-11vital capacity5130026751130026752Human

Markers in Region
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


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2377 2788 2229 4923 1715 2299 5 618 1121 460 2267 6439 5654 35 3683 840 1718 1569 172 1

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
  XM_054352494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352500 (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
  CP068273 (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

Ensembl Acc Id: ENST00000305031   ⟹   ENSP00000302629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5129,904,465 - 130,186,634 (+)Ensembl
Ensembl Acc Id: ENST00000507545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.05130,423,273 - 130,705,475 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005271982   ⟹   XP_005272039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385129,904,465 - 130,142,344 (+)NCBI
GRCh375129,240,389 - 129,522,327 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005271983   ⟹   XP_005272040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385129,904,465 - 130,011,359 (+)NCBI
GRCh375129,240,389 - 129,522,327 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543363   ⟹   XP_011541665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385129,903,979 - 130,186,634 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543364   ⟹   XP_011541666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385130,182,460 - 130,186,634 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543365   ⟹   XP_011541667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385129,904,465 - 130,186,634 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009434   ⟹   XP_016864923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385130,042,188 - 130,186,634 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009435   ⟹   XP_016864924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385129,904,465 - 130,141,544 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054352494   ⟹   XP_054208469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05130,422,787 - 130,705,475 (+)NCBI
RefSeq Acc Id: XM_054352495   ⟹   XP_054208470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05130,560,986 - 130,705,475 (+)NCBI
RefSeq Acc Id: XM_054352496   ⟹   XP_054208471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05130,701,301 - 130,705,475 (+)NCBI
RefSeq Acc Id: XM_054352497   ⟹   XP_054208472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05130,423,273 - 130,660,359 (+)NCBI
RefSeq Acc Id: XM_054352498   ⟹   XP_054208473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05130,423,273 - 130,705,475 (+)NCBI
RefSeq Acc Id: XM_054352499   ⟹   XP_054208474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05130,423,273 - 130,661,157 (+)NCBI
RefSeq Acc Id: XM_054352500   ⟹   XP_054208475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05130,423,273 - 130,529,540 (+)NCBI
RefSeq Acc Id: NP_787052   ⟸   NM_175856
- UniProtKB: Q76L22 (UniProtKB/Swiss-Prot),   B2RP97 (UniProtKB/Swiss-Prot),   Q86Y52 (UniProtKB/Swiss-Prot),   Q70JA7 (UniProtKB/Swiss-Prot),   A2V663 (UniProtKB/TrEMBL)
- 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:
Ensembl Acc Id: ENSP00000302629   ⟸   ENST00000305031
RefSeq Acc Id: XP_054208469   ⟸   XM_054352494
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054208473   ⟸   XM_054352498
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054208474   ⟸   XM_054352499
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054208472   ⟸   XM_054352497
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054208475   ⟸   XM_054352500
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054208470   ⟸   XM_054352495
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054208471   ⟸   XM_054352496
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q70JA7-F1-model_v2 AlphaFold Q70JA7 1-882 view protein structure

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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24293 AgrOrtholog
COSMIC CHSY3 COSMIC
Ensembl Genes ENSG00000198108 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000305031 ENTREZGENE
  ENST00000305031.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.90.550.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198108 GTEx
HGNC ID HGNC:24293 ENTREZGENE
Human Proteome Map CHSY3 Human Proteome Map
InterPro Chond_GalNAc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CS_glycosyltransferase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:337876 UniProtKB/Swiss-Prot
NCBI Gene 337876 ENTREZGENE
OMIM 609963 OMIM
PANTHER CHONDROITIN SULFATE SYNTHASE 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CHONDROITIN SYNTHASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CHGN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162382259 PharmGKB
Superfamily-SCOP Nucleotide-diphospho-sugar transferases UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt A2V663 ENTREZGENE, UniProtKB/TrEMBL
  B2RP97 ENTREZGENE
  CHSS3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q76L22 ENTREZGENE
  Q86Y52 ENTREZGENE
UniProt Secondary B2RP97 UniProtKB/Swiss-Prot
  Q76L22 UniProtKB/Swiss-Prot
  Q86Y52 UniProtKB/Swiss-Prot