TESC (tescalcin) - Rat Genome Database

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Gene: TESC (tescalcin) Homo sapiens
Analyze
Symbol: TESC
Name: tescalcin
RGD ID: 1606266
HGNC Page HGNC
Description: Enables calcium ion binding activity. Involved in several processes, including cellular response to retinoic acid; positive regulation of macromolecule metabolic process; and positive regulation of myeloid cell differentiation. Located in several cellular components, including cytosol; lamellipodium; and nucleoplasm; INTERACTS WITH 2,2',4,4'-Tetrabromodiphenyl ether; 2,3,7,8-tetrachlorodibenzodioxine; 3,3',5,5'-tetrabromobisphenol A.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: calcineurin B homologous protein 3; calcineurin-like EF hand protein 3; CHP3; FLJ20607; TSC
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 Ensembl12117,038,923 - 117,099,479 (-)EnsemblGRCh38hg38GRCh38
GRCh3812117,038,923 - 117,099,490 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712117,476,728 - 117,537,221 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612115,961,111 - 116,021,634 (-)NCBINCBI36hg18NCBI36
Celera12117,106,248 - 117,166,769 (-)NCBI
Cytogenetic Map12q24.22NCBI
HuRef12114,485,557 - 114,546,137 (-)NCBIHuRef
CHM1_112117,444,429 - 117,505,233 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:11145610   PMID:11696366   PMID:12477932   PMID:12809501   PMID:14661968   PMID:15489334   PMID:16189514   PMID:17717601   PMID:18321853   PMID:19345287   PMID:20060826  
PMID:21553168   PMID:22984264   PMID:24659803   PMID:24776739   PMID:24811141   PMID:25416956   PMID:25935310   PMID:27485112   PMID:28514442   PMID:28575645   PMID:30013043   PMID:30287853  
PMID:30594602   PMID:31002343   PMID:31912575   PMID:32451266   PMID:32609436   PMID:34021124  


Genomics

Comparative Map Data
TESC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl12117,038,923 - 117,099,479 (-)EnsemblGRCh38hg38GRCh38
GRCh3812117,038,923 - 117,099,490 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712117,476,728 - 117,537,221 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612115,961,111 - 116,021,634 (-)NCBINCBI36hg18NCBI36
Celera12117,106,248 - 117,166,769 (-)NCBI
Cytogenetic Map12q24.22NCBI
HuRef12114,485,557 - 114,546,137 (-)NCBIHuRef
CHM1_112117,444,429 - 117,505,233 (-)NCBICHM1_1
Tesc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395118,165,808 - 118,199,943 (+)NCBIGRCm39mm39
GRCm39 Ensembl5118,165,808 - 118,199,943 (+)Ensembl
GRCm385118,027,743 - 118,061,878 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5118,027,743 - 118,061,878 (+)EnsemblGRCm38mm10GRCm38
MGSCv375118,477,833 - 118,511,879 (+)NCBIGRCm37mm9NCBIm37
MGSCv365118,288,854 - 118,322,900 (+)NCBImm8
Celera5115,122,941 - 115,156,704 (+)NCBICelera
Cytogenetic Map5FNCBI
cM Map557.84NCBI
Tesc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21238,521,839 - 38,555,665 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1238,521,861 - 38,555,824 (-)Ensembl
Rnor_6.01244,141,258 - 44,174,701 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1244,141,422 - 44,174,583 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01245,972,890 - 46,006,329 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41239,669,706 - 39,704,041 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1240,180,191 - 40,225,489 (-)NCBICelera
Cytogenetic Map12q16NCBI
Tesc
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545514,053,443 - 14,092,637 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545514,053,918 - 14,092,637 (+)NCBIChiLan1.0ChiLan1.0
TESC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.112117,991,047 - 118,051,370 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12117,991,047 - 118,051,346 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v012114,615,155 - 114,675,932 (-)NCBIMhudiblu_PPA_v0panPan3
TESC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12613,645,513 - 13,700,521 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2613,645,511 - 13,689,367 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2613,639,965 - 13,687,307 (-)NCBI
ROS_Cfam_1.02613,905,740 - 13,953,098 (-)NCBI
UMICH_Zoey_3.12613,867,524 - 13,914,859 (-)NCBI
UNSW_CanFamBas_1.02613,944,789 - 13,999,699 (-)NCBI
UU_Cfam_GSD_1.02613,980,002 - 14,027,402 (-)NCBI
Tesc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118154,062,082 - 154,103,256 (-)NCBI
SpeTri2.0NW_0049365585,397,018 - 5,417,335 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TESC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1435,381,918 - 35,452,207 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11435,381,899 - 35,452,215 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21437,601,263 - 37,658,113 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TESC
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111112,331,123 - 112,410,901 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl11112,327,906 - 112,410,849 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666037132,669,841 - 132,746,806 (+)NCBIVero_WHO_p1.0
Tesc
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474716,189,032 - 16,228,211 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH76322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712117,476,768 - 117,477,008UniSTSGRCh37
Build 3612115,961,151 - 115,961,391RGDNCBI36
Celera12117,106,288 - 117,106,528RGD
Cytogenetic Map12q24.22UniSTS
HuRef12114,485,597 - 114,485,837UniSTS
RH91363  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712117,476,841 - 117,476,988UniSTSGRCh37
Build 3612115,961,224 - 115,961,371RGDNCBI36
Celera12117,106,361 - 117,106,508RGD
Cytogenetic Map12q24.22UniSTS
HuRef12114,485,670 - 114,485,817UniSTS
GeneMap99-GB4 RH Map12456.86UniSTS
SHGC-82386  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712117,524,766 - 117,525,052UniSTSGRCh37
Build 3612116,009,149 - 116,009,435RGDNCBI36
Celera12117,154,284 - 117,154,570RGD
Cytogenetic Map12q24.22UniSTS
HuRef12114,533,588 - 114,533,874UniSTS
TNG Radiation Hybrid Map1258026.0UniSTS
SHGC-148494  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712117,496,732 - 117,497,006UniSTSGRCh37
Build 3612115,981,115 - 115,981,389RGDNCBI36
Celera12117,126,252 - 117,126,526RGD
Cytogenetic Map12q24.22UniSTS
HuRef12114,505,561 - 114,505,835UniSTS
TNG Radiation Hybrid Map1258011.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2613
Count of miRNA genes:747
Interacting mature miRNAs:878
Transcripts:ENST00000335209, ENST00000392545, ENST00000462502, ENST00000470612, ENST00000482176, ENST00000535198, ENST00000541210, ENST00000549210, ENST00000552139
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 602 1542 1159 227 1606 108 985 456 1837 179 708 1027 121 428 416 1
Low 1817 1362 550 386 313 345 3253 1716 1837 210 697 512 42 776 2295 1 2
Below cutoff 12 82 12 10 17 11 102 13 17 20 33 47 8 1 74 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001168325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_031766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC026368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF443207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI372964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI910454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE670015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM666793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ434057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ949772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB452909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000335209   ⟹   ENSP00000334785
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12117,038,923 - 117,099,416 (-)Ensembl
RefSeq Acc Id: ENST00000462502   ⟹   ENSP00000432608
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12117,046,480 - 117,099,408 (-)Ensembl
RefSeq Acc Id: ENST00000470612   ⟹   ENSP00000432716
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12117,038,923 - 117,099,479 (-)Ensembl
RefSeq Acc Id: ENST00000482176
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12117,048,798 - 117,099,431 (-)Ensembl
RefSeq Acc Id: ENST00000535198
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12117,046,569 - 117,053,995 (-)Ensembl
RefSeq Acc Id: ENST00000541210   ⟹   ENSP00000445689
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12117,038,925 - 117,099,446 (-)Ensembl
RefSeq Acc Id: ENST00000549210   ⟹   ENSP00000450386
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12117,038,957 - 117,046,831 (-)Ensembl
RefSeq Acc Id: ENST00000552139
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12117,075,297 - 117,098,655 (-)Ensembl
RefSeq Acc Id: NM_001168325   ⟹   NP_001161797
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812117,038,923 - 117,099,416 (-)NCBI
GRCh3712117,476,728 - 117,537,251 (-)RGD
Celera12117,106,248 - 117,166,769 (-)RGD
HuRef12114,485,557 - 114,546,137 (-)RGD
CHM1_112117,444,429 - 117,505,233 (-)NCBI
Sequence:
RefSeq Acc Id: NM_017899   ⟹   NP_060369
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812117,038,923 - 117,099,416 (-)NCBI
GRCh3712117,476,728 - 117,537,251 (-)RGD
Build 3612115,961,111 - 116,021,634 (-)NCBI Archive
Celera12117,106,248 - 117,166,769 (-)RGD
HuRef12114,485,557 - 114,546,137 (-)RGD
CHM1_112117,444,429 - 117,505,233 (-)NCBI
Sequence:
RefSeq Acc Id: NR_031766
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812117,038,923 - 117,099,416 (-)NCBI
GRCh3712117,476,728 - 117,537,251 (-)RGD
Celera12117,106,248 - 117,166,769 (-)RGD
HuRef12114,485,557 - 114,546,137 (-)RGD
CHM1_112117,444,429 - 117,505,233 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011538503   ⟹   XP_011536805
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812117,038,923 - 117,093,688 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019532   ⟹   XP_016875021
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812117,038,923 - 117,099,490 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019533   ⟹   XP_016875022
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812117,038,923 - 117,099,490 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_060369   ⟸   NM_017899
- Peptide Label: isoform 1
- UniProtKB: Q96BS2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001161797   ⟸   NM_001168325
- Peptide Label: isoform 2
- UniProtKB: Q96BS2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011536805   ⟸   XM_011538503
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016875021   ⟸   XM_017019532
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016875022   ⟸   XM_017019533
- Peptide Label: isoform X2
- UniProtKB: Q96BS2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000445689   ⟸   ENST00000541210
RefSeq Acc Id: ENSP00000334785   ⟸   ENST00000335209
RefSeq Acc Id: ENSP00000450386   ⟸   ENST00000549210
RefSeq Acc Id: ENSP00000432716   ⟸   ENST00000470612
RefSeq Acc Id: ENSP00000432608   ⟸   ENST00000462502
Protein Domains
EF-hand

Promoters
RGD ID:6814534
Promoter ID:HG_XEF:2110
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:NM_001095029
Position:
Human AssemblyChrPosition (strand)Source
Build 3612115,971,291 - 115,971,791 (-)MPROMDB
RGD ID:6790543
Promoter ID:HG_KWN:16770
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:OTTHUMT00000291366
Position:
Human AssemblyChrPosition (strand)Source
Build 3612115,975,891 - 115,976,992 (-)MPROMDB
RGD ID:6810445
Promoter ID:HG_ACW:19162
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:TESC.EAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 3612116,020,761 - 116,021,261 (-)MPROMDB
RGD ID:6790540
Promoter ID:HG_KWN:16771
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001168325,   OTTHUMT00000291364,   OTTHUMT00000291365,   OTTHUMT00000291367,   UC001TWH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3612116,021,349 - 116,021,849 (-)MPROMDB
RGD ID:7225529
Promoter ID:EPDNEW_H18510
Type:initiation region
Name:TESC_1
Description:tescalcin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18511  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812117,099,413 - 117,099,473EPDNEW
RGD ID:7225531
Promoter ID:EPDNEW_H18511
Type:initiation region
Name:TESC_2
Description:tescalcin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18510  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812117,099,632 - 117,099,692EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q24.21-24.22(chr12:116028938-117300100)x3 copy number gain See cases [RCV000051980] Chr12:116028938..117300100 [GRCh38]
Chr12:116466743..117737905 [GRCh37]
Chr12:114951126..116222288 [NCBI36]
Chr12:12q24.21-24.22
uncertain significance
GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3 copy number gain See cases [RCV000053689] Chr12:115131583..133166920 [GRCh38]
Chr12:115569388..133743506 [GRCh37]
Chr12:114053771..132253579 [NCBI36]
Chr12:12q24.21-24.33
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3 copy number gain See cases [RCV000143656] Chr12:114268403..133201316 [GRCh38]
Chr12:114706208..133777902 [GRCh37]
Chr12:113190591..132287975 [NCBI36]
Chr12:12q24.21-24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
GRCh37/hg19 12q24.21-24.23(chr12:116028864-118791808)x1 copy number loss See cases [RCV000445736] Chr12:116028864..118791808 [GRCh37]
Chr12:12q24.21-24.23
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12q24.21-24.22(chr12:116421601-117740952)x3 copy number gain See cases [RCV000512569] Chr12:116421601..117740952 [GRCh37]
Chr12:12q24.21-24.22
uncertain significance
GRCh37/hg19 12q24.22-24.23(chr12:117104335-118209153)x1 copy number loss not provided [RCV000683457] Chr12:117104335..118209153 [GRCh37]
Chr12:12q24.22-24.23
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_017899.4(TESC):c.381C>T (p.Asp127=) single nucleotide variant not provided [RCV000906918] Chr12:117046807 [GRCh38]
Chr12:117484612 [GRCh37]
Chr12:12q24.22
likely benign
NM_017899.4(TESC):c.502G>A (p.Val168Met) single nucleotide variant not provided [RCV000947497] Chr12:117046576 [GRCh38]
Chr12:117484381 [GRCh37]
Chr12:12q24.22
benign
NM_017899.4(TESC):c.447C>T (p.Ile149=) single nucleotide variant not provided [RCV000970256] Chr12:117046631 [GRCh38]
Chr12:117484436 [GRCh37]
Chr12:12q24.22
benign
NM_017899.4(TESC):c.609C>T (p.Arg203=) single nucleotide variant not provided [RCV000893249] Chr12:117039169 [GRCh38]
Chr12:117476974 [GRCh37]
Chr12:12q24.22
benign
NM_017899.4(TESC):c.603C>T (p.His201=) single nucleotide variant not provided [RCV000906016] Chr12:117039175 [GRCh38]
Chr12:117476980 [GRCh37]
Chr12:12q24.22
benign
GRCh37/hg19 12q24.21-24.23(chr12:116718607-119728623)x1 copy number loss not provided [RCV000847173] Chr12:116718607..119728623 [GRCh37]
Chr12:12q24.21-24.23
uncertain significance
NM_017899.4(TESC):c.495G>A (p.Ala165=) single nucleotide variant not provided [RCV000918870] Chr12:117046583 [GRCh38]
Chr12:117484388 [GRCh37]
Chr12:12q24.22
likely benign
NM_017899.4(TESC):c.350-9C>A single nucleotide variant not provided [RCV000974273] Chr12:117046847 [GRCh38]
Chr12:117484652 [GRCh37]
Chr12:12q24.22
benign
NM_017899.4(TESC):c.297C>T (p.Asp99=) single nucleotide variant not provided [RCV000888465] Chr12:117049071 [GRCh38]
Chr12:117486876 [GRCh37]
Chr12:12q24.22
benign
NM_017899.4(TESC):c.249C>A (p.Ile83=) single nucleotide variant not provided [RCV000922237] Chr12:117049119 [GRCh38]
Chr12:117486924 [GRCh37]
Chr12:12q24.22
likely benign
NM_017899.4(TESC):c.432G>A (p.Ser144=) single nucleotide variant not provided [RCV000934456] Chr12:117046646 [GRCh38]
Chr12:117484451 [GRCh37]
Chr12:12q24.22
likely benign
NM_017899.4(TESC):c.195C>T (p.Ala65=) single nucleotide variant not provided [RCV000911312] Chr12:117056820 [GRCh38]
Chr12:117494625 [GRCh37]
Chr12:12q24.22
likely benign
GRCh37/hg19 12q24.21-24.22(chr12:116416809-117740952)x3 copy number gain not provided [RCV001006533] Chr12:116416809..117740952 [GRCh37]
Chr12:12q24.21-24.22
uncertain significance
GRCh37/hg19 12q24.22(chr12:117147027-117705774)x4 copy number gain not provided [RCV001006537] Chr12:117147027..117705774 [GRCh37]
Chr12:12q24.22
uncertain significance
GRCh37/hg19 12q24.22(chr12:117327155-117693543)x3 copy number gain not provided [RCV001259633] Chr12:117327155..117693543 [GRCh37]
Chr12:12q24.22
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26065 AgrOrtholog
COSMIC TESC COSMIC
Ensembl Genes ENSG00000088992 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000334785 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432608 UniProtKB/TrEMBL
  ENSP00000432716 UniProtKB/Swiss-Prot
  ENSP00000445689 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000450386 UniProtKB/TrEMBL
Ensembl Transcript ENST00000335209 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000462502 UniProtKB/TrEMBL
  ENST00000470612 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000541210 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000549210 UniProtKB/TrEMBL
GTEx ENSG00000088992 GTEx
HGNC ID HGNC:26065 ENTREZGENE
Human Proteome Map TESC Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot
  EF_hand_dom UniProtKB/Swiss-Prot
KEGG Report hsa:54997 UniProtKB/Swiss-Prot
NCBI Gene 54997 ENTREZGENE
OMIM 611585 OMIM
PharmGKB PA143485630 PharmGKB
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot
  EF_HAND_2 UniProtKB/Swiss-Prot
SMART EFh UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt CHP3_HUMAN UniProtKB/Swiss-Prot
  E9PQ58_HUMAN UniProtKB/TrEMBL
  H0YIX4_HUMAN UniProtKB/TrEMBL
  Q96BS2 ENTREZGENE
UniProt Secondary F5H1Y5 UniProtKB/Swiss-Prot
  Q9NWT9 UniProtKB/Swiss-Prot