CHST12 (carbohydrate sulfotransferase 12) - Rat Genome Database

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Gene: CHST12 (carbohydrate sulfotransferase 12) Homo sapiens
Analyze
Symbol: CHST12
Name: carbohydrate sulfotransferase 12
RGD ID: 1317861
HGNC Page HGNC
Description: Exhibits chondroitin 4-sulfotransferase activity. Involved in chondroitin sulfate biosynthetic process and dermatan sulfate biosynthetic process. Localizes to membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C4S-2; C4ST-2; C4ST2; carbohydrate (chondroitin 4) sulfotransferase 12; chondroitin 4-O-sulfotransferase 2; chondroitin 4-sulfotransferase 2; sulfotransferase Hlo
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 Ensembl72,403,588 - 2,448,484 (+)EnsemblGRCh38hg38GRCh38
GRCh3872,403,489 - 2,448,484 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3772,443,246 - 2,488,119 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3672,409,785 - 2,440,766 (+)NCBINCBI36hg18NCBI36
Build 3472,216,463 - 2,247,455NCBI
Celera72,412,652 - 2,443,589 (+)NCBI
Cytogenetic Map7p22.3NCBI
HuRef72,362,154 - 2,393,179 (+)NCBIHuRef
CHM1_172,442,784 - 2,473,806 (+)NCBICHM1_1
CRA_TCAGchr7v272,491,089 - 2,522,136 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
hypertension  (ISO)

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:8125298   PMID:9847074   PMID:10781601   PMID:12477932   PMID:12690205   PMID:12847091   PMID:12975309   PMID:14702039   PMID:15489334   PMID:16344560   PMID:17353931   PMID:19946888  
PMID:20580388   PMID:21833088   PMID:21873635   PMID:26186194   PMID:26496610   PMID:26993826   PMID:28514442   PMID:30561431   PMID:31318583   PMID:31845005  


Genomics

Comparative Map Data
CHST12
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl72,403,588 - 2,448,484 (+)EnsemblGRCh38hg38GRCh38
GRCh3872,403,489 - 2,448,484 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3772,443,246 - 2,488,119 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3672,409,785 - 2,440,766 (+)NCBINCBI36hg18NCBI36
Build 3472,216,463 - 2,247,455NCBI
Celera72,412,652 - 2,443,589 (+)NCBI
Cytogenetic Map7p22.3NCBI
HuRef72,362,154 - 2,393,179 (+)NCBIHuRef
CHM1_172,442,784 - 2,473,806 (+)NCBICHM1_1
CRA_TCAGchr7v272,491,089 - 2,522,136 (+)NCBI
Chst12
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395140,491,360 - 140,510,993 (+)NCBIGRCm39mm39
GRCm39 Ensembl5140,491,305 - 140,511,479 (+)Ensembl
GRCm385140,505,569 - 140,525,238 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5140,505,550 - 140,525,724 (+)EnsemblGRCm38mm10GRCm38
MGSCv375140,981,563 - 141,001,192 (+)NCBIGRCm37mm9NCBIm37
MGSCv365140,758,102 - 140,777,712 (+)NCBImm8
Celera5137,565,564 - 137,585,192 (+)NCBICelera
Cytogenetic Map5G2NCBI
Chst12
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21214,110,631 - 14,129,099 (-)NCBI
Rnor_6.0 Ensembl1216,200,019 - 16,201,632 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01216,199,975 - 16,218,404 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01218,193,299 - 18,211,432 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41214,577,440 - 14,579,051 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11214,607,640 - 14,608,900 (-)NCBI
Celera1215,869,923 - 15,871,534 (-)NCBICelera
Cytogenetic Map12q11NCBI
Chst12
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546012,847,440 - 12,875,614 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546012,847,440 - 12,875,614 (-)NCBIChiLan1.0ChiLan1.0
CHST12
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.172,763,706 - 2,794,147 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl72,792,210 - 2,793,454 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v072,666,062 - 2,697,292 (+)NCBIMhudiblu_PPA_v0panPan3
CHST12
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1614,702,493 - 14,713,440 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl614,705,427 - 14,706,686 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha616,165,669 - 16,188,970 (-)NCBI
ROS_Cfam_1.0614,829,257 - 14,852,752 (-)NCBI
UMICH_Zoey_3.1614,632,993 - 14,656,290 (-)NCBI
UNSW_CanFamBas_1.0614,561,363 - 14,584,672 (-)NCBI
UU_Cfam_GSD_1.0614,849,398 - 14,870,888 (-)NCBI
Chst12
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344142,840,101 - 142,863,581 (-)NCBI
SpeTri2.0NW_004936823187,920 - 210,818 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHST12
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl31,720,500 - 1,745,338 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.131,721,047 - 1,743,080 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.232,285,216 - 2,286,666 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CHST12
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12819,174,283 - 19,200,564 (-)NCBI
ChlSab1.1 Ensembl2819,174,502 - 19,175,746 (-)Ensembl
Chst12
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474030,499,718 - 30,519,745 (-)NCBI

Position Markers
RH102470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3772,473,841 - 2,474,007UniSTSGRCh37
Build 3672,440,367 - 2,440,533RGDNCBI36
Celera72,443,190 - 2,443,356RGD
Cytogenetic Map7p22UniSTS
HuRef72,392,778 - 2,392,944UniSTS
CRA_TCAGchr7v272,521,735 - 2,521,901UniSTS
GeneMap99-GB4 RH Map717.61UniSTS
WI-15817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3772,473,543 - 2,473,642UniSTSGRCh37
Build 3672,440,069 - 2,440,168RGDNCBI36
Celera72,442,884 - 2,442,983RGD
Cytogenetic Map7p22UniSTS
HuRef72,392,480 - 2,392,579UniSTS
CRA_TCAGchr7v272,521,437 - 2,521,536UniSTS
GeneMap99-GB4 RH Map733.98UniSTS
Whitehead-RH Map727.0UniSTS
GDB:1317144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3772,457,525 - 2,457,609UniSTSGRCh37
Build 3672,424,051 - 2,424,135RGDNCBI36
Celera72,426,867 - 2,426,951RGD
Cytogenetic Map7p22UniSTS
HuRef72,376,462 - 2,376,546UniSTS
CRA_TCAGchr7v272,505,419 - 2,505,503UniSTS
CHST12_4572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3772,472,983 - 2,473,724UniSTSGRCh37
Build 3672,439,509 - 2,440,250RGDNCBI36
Celera72,442,324 - 2,443,065RGD
HuRef72,391,920 - 2,392,661UniSTS
CRA_TCAGchr7v272,520,877 - 2,521,618UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:572
Count of miRNA genes:469
Interacting mature miRNAs:515
Transcripts:ENST00000258711, ENST00000432336
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 71 29 98 42 269 42 52 10 117 198 189 159 2 1 11 1
Low 2363 2921 1616 571 1641 412 4305 2180 3615 221 1271 1454 173 1 1203 2777 5 2
Below cutoff 5 41 12 11 41 11 7 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF239822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ289131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC095492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA078292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA704587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000258711   ⟹   ENSP00000258711
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl72,403,588 - 2,448,483 (+)Ensembl
RefSeq Acc Id: ENST00000313156
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl72,437,763 - 2,447,850 (+)Ensembl
RefSeq Acc Id: ENST00000432336   ⟹   ENSP00000411207
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl72,404,099 - 2,433,375 (+)Ensembl
RefSeq Acc Id: ENST00000618655   ⟹   ENSP00000481912
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl72,403,611 - 2,448,484 (+)Ensembl
RefSeq Acc Id: NM_001243794   ⟹   NP_001230723
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,403,611 - 2,448,484 (+)NCBI
GRCh3772,443,195 - 2,474,242 (+)NCBI
HuRef72,362,154 - 2,393,179 (+)NCBI
CHM1_172,442,784 - 2,473,806 (+)NCBI
CRA_TCAGchr7v272,491,089 - 2,522,136 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001243795   ⟹   NP_001230724
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,403,611 - 2,448,484 (+)NCBI
GRCh3772,443,195 - 2,474,242 (+)NCBI
HuRef72,362,154 - 2,393,179 (+)NCBI
CHM1_172,442,784 - 2,473,806 (+)NCBI
CRA_TCAGchr7v272,491,089 - 2,522,136 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018641   ⟹   NP_061111
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,403,611 - 2,448,484 (+)NCBI
GRCh3772,443,195 - 2,474,242 (+)NCBI
Build 3672,409,785 - 2,440,766 (+)NCBI Archive
Celera72,412,652 - 2,443,589 (+)RGD
HuRef72,362,154 - 2,393,179 (+)NCBI
CHM1_172,442,784 - 2,473,806 (+)NCBI
CRA_TCAGchr7v272,491,089 - 2,522,136 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011515443   ⟹   XP_011513745
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,403,968 - 2,434,036 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011515444   ⟹   XP_011513746
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,403,489 - 2,434,036 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002956463
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,432,563 - 2,447,850 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_061111   ⟸   NM_018641
- UniProtKB: Q9NRB3 (UniProtKB/Swiss-Prot),   A0A024R860 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230724   ⟸   NM_001243795
- UniProtKB: Q9NRB3 (UniProtKB/Swiss-Prot),   A0A024R860 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230723   ⟸   NM_001243794
- UniProtKB: Q9NRB3 (UniProtKB/Swiss-Prot),   A0A024R860 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513746   ⟸   XM_011515444
- Peptide Label: isoform X1
- UniProtKB: Q9NRB3 (UniProtKB/Swiss-Prot),   A0A024R860 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513745   ⟸   XM_011515443
- Peptide Label: isoform X1
- UniProtKB: Q9NRB3 (UniProtKB/Swiss-Prot),   A0A024R860 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000258711   ⟸   ENST00000258711
RefSeq Acc Id: ENSP00000411207   ⟸   ENST00000432336
RefSeq Acc Id: ENSP00000481912   ⟸   ENST00000618655

Promoters
RGD ID:7209819
Promoter ID:EPDNEW_H10655
Type:initiation region
Name:CHST12_1
Description:carbohydrate sulfotransferase 12
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,403,611 - 2,403,671EPDNEW
RGD ID:6805386
Promoter ID:HG_KWN:56040
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_018641,   OTTHUMT00000060170,   OTTHUMT00000325030
Position:
Human AssemblyChrPosition (strand)Source
Build 3672,409,191 - 2,409,691 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3(chr7:2109441-2412551)x1 copy number loss See cases [RCV000050962] Chr7:2109441..2412551 [GRCh38]
Chr7:2149076..2452186 [GRCh37]
Chr7:2115602..2418712 [NCBI36]
Chr7:7p22.3
uncertain significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1
pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1 copy number loss See cases [RCV000052249] Chr7:45130..5880375 [GRCh38]
Chr7:45130..5920006 [GRCh37]
Chr7:140213..5886532 [NCBI36]
Chr7:7p22.3-22.1
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3 copy number gain See cases [RCV000053527] Chr7:45130..6270185 [GRCh38]
Chr7:45130..6309816 [GRCh37]
Chr7:140213..6276341 [NCBI36]
Chr7:7p22.3-22.1
pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3
pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|See cases [RCV000053529] Chr7:54185..8274834 [GRCh38]
Chr7:54185..8314464 [GRCh37]
Chr7:149268..8280989 [NCBI36]
Chr7:7p22.3-21.3
pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p22.3(chr7:2399677-2440907)x1 copy number loss See cases [RCV000136437] Chr7:2399677..2440907 [GRCh38]
Chr7:2439312..2480542 [GRCh37]
Chr7:2405838..2447068 [NCBI36]
Chr7:7p22.3
benign
GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1 copy number loss See cases [RCV000136789] Chr7:54185..3324143 [GRCh38]
Chr7:54185..3363775 [GRCh37]
Chr7:149268..3330301 [NCBI36]
Chr7:7p22.3-22.2
pathogenic
GRCh38/hg38 7p22.3(chr7:1330987-2530644)x1 copy number loss See cases [RCV000136673] Chr7:1330987..2530644 [GRCh38]
Chr7:1370623..2570278 [GRCh37]
Chr7:1337149..2536804 [NCBI36]
Chr7:7p22.3
uncertain significance
GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3 copy number gain See cases [RCV000136731] Chr7:54185..6638027 [GRCh38]
Chr7:54185..6677658 [GRCh37]
Chr7:149268..6644183 [NCBI36]
Chr7:7p22.3-22.1
pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 copy number gain See cases [RCV000137524] Chr7:45130..7252065 [GRCh38]
Chr7:45130..7291696 [GRCh37]
Chr7:140213..7258221 [NCBI36]
Chr7:7p22.3-21.3
pathogenic
GRCh38/hg38 7p22.3(chr7:1085248-2530644)x4 copy number gain See cases [RCV000137818] Chr7:1085248..2530644 [GRCh38]
Chr7:1124884..2570278 [GRCh37]
Chr7:1091410..2536804 [NCBI36]
Chr7:7p22.3
uncertain significance
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1 copy number loss See cases [RCV000142995] Chr7:54165..3258775 [GRCh38]
Chr7:54165..3298407 [GRCh37]
Chr7:149248..3264933 [NCBI36]
Chr7:7p22.3-22.2
pathogenic
GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3 copy number gain See cases [RCV000143175] Chr7:45130..3406236 [GRCh38]
Chr7:45130..3445868 [GRCh37]
Chr7:140213..3412394 [NCBI36]
Chr7:7p22.3-22.2
uncertain significance
GRCh38/hg38 7p22.3(chr7:2031462-2653470)x3 copy number gain See cases [RCV000143263] Chr7:2031462..2653470 [GRCh38]
Chr7:2071097..2693104 [GRCh37]
Chr7:2037623..2659630 [NCBI36]
Chr7:7p22.3
likely benign|uncertain significance
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:1004794-4063934)x4 copy number gain See cases [RCV000240233] Chr7:1004794..4063934 [GRCh37]
Chr7:7p22.3-22.2
uncertain significance
GRCh37/hg19 7p22.3-22.1(chr7:43360-5443709)x3 copy number gain See cases [RCV000449281] Chr7:43360..5443709 [GRCh37]
Chr7:7p22.3-22.1
pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 copy number gain See cases [RCV000449446] Chr7:183556..12746636 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 copy number gain See cases [RCV000449347] Chr7:43360..17656861 [GRCh37]
Chr7:7p22.3-21.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3(chr7:2295688-2486368)x1 copy number loss See cases [RCV000446203] Chr7:2295688..2486368 [GRCh37]
Chr7:7p22.3
uncertain significance
GRCh37/hg19 7p22.3-22.2(chr7:43360-2825753)x3 copy number gain See cases [RCV000447222] Chr7:43360..2825753 [GRCh37]
Chr7:7p22.3-22.2
likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3
pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3
pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:43360-3642604)x1 copy number loss See cases [RCV000511648] Chr7:43360..3642604 [GRCh37]
Chr7:7p22.3-22.2
pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:2408769-2987197)x3 copy number gain See cases [RCV000512034] Chr7:2408769..2987197 [GRCh37]
Chr7:7p22.3-22.2
uncertain significance
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3 copy number gain See cases [RCV000511772] Chr7:43360..14664158 [GRCh37]
Chr7:7p22.3-21.2
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3 copy number gain See cases [RCV000510950] Chr7:43360..12098696 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3 copy number gain See cases [RCV000512505] Chr7:43360..11567351 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh37/hg19 7p22.3-22.1(chr7:1201674-5175651)x1 copy number loss See cases [RCV000512351] Chr7:1201674..5175651 [GRCh37]
Chr7:7p22.3-22.1
pathogenic
GRCh37/hg19 7p22.3(chr7:2219184-2612472)x1 copy number loss not provided [RCV000682839] Chr7:2219184..2612472 [GRCh37]
Chr7:7p22.3
likely pathogenic
GRCh37/hg19 7p22.3(chr7:2363275-2707822)x3 copy number gain not provided [RCV000682831] Chr7:2363275..2707822 [GRCh37]
Chr7:7p22.3
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3(chr7:2268970-2600076)x3 copy number gain not provided [RCV000746334] Chr7:2268970..2600076 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 copy number gain not provided [RCV000746277] Chr7:10239..13116278 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_018641.5(CHST12):c.629C>G (p.Ala210Gly) single nucleotide variant not provided [RCV000965029] Chr7:2433268 [GRCh38]
Chr7:2472903 [GRCh37]
Chr7:7p22.3
benign
NM_018641.5(CHST12):c.93C>T (p.Ala31=) single nucleotide variant not provided [RCV000918652] Chr7:2432732 [GRCh38]
Chr7:2472367 [GRCh37]
Chr7:7p22.3
likely benign
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1
pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3 copy number gain not provided [RCV001005891] Chr7:1648373..10627513 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:36616-4298168)x1 copy number loss not provided [RCV000849273] Chr7:36616..4298168 [GRCh37]
Chr7:7p22.3-22.2
pathogenic
GRCh37/hg19 7p22.3(chr7:2291136-2525534)x3 copy number gain not provided [RCV000845784] Chr7:2291136..2525534 [GRCh37]
Chr7:7p22.3
uncertain significance
GRCh37/hg19 7p22.3(chr7:2155103-2629996)x3 copy number gain not provided [RCV001259993] Chr7:2155103..2629996 [GRCh37]
Chr7:7p22.3
uncertain significance
GRCh37/hg19 7p22.3(chr7:2169252-2577781)x3 copy number gain not provided [RCV001259994] Chr7:2169252..2577781 [GRCh37]
Chr7:7p22.3
uncertain significance
GRCh37/hg19 7p22.3(chr7:2082065-2669221)x3 copy number gain not provided [RCV001259998] Chr7:2082065..2669221 [GRCh37]
Chr7:7p22.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17423 AgrOrtholog
COSMIC CHST12 COSMIC
Ensembl Genes ENSG00000136213 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000258711 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000411207 UniProtKB/TrEMBL
  ENSP00000481912 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000258711 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000432336 UniProtKB/TrEMBL
  ENST00000618655 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000136213 GTEx
HGNC ID HGNC:17423 ENTREZGENE
Human Proteome Map CHST12 Human Proteome Map
InterPro Carb_sulfotrans_8-10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sulfotransferase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55501 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 55501 ENTREZGENE
OMIM 610129 OMIM
PANTHER PTHR12137 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Sulfotransfer_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134969008 PharmGKB
UniProt A0A024R860 ENTREZGENE, UniProtKB/TrEMBL
  C9J991_HUMAN UniProtKB/TrEMBL
  CHSTC_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A4D1Z9 UniProtKB/Swiss-Prot
  Q502W3 UniProtKB/Swiss-Prot
  Q9NXY7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-09 CHST12  carbohydrate sulfotransferase 12  CHST12  carbohydrate (chondroitin 4) sulfotransferase 12  Symbol and/or name change 5135510 APPROVED