CTHRC1 (collagen triple helix repeat containing 1) - Rat Genome Database

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Gene: CTHRC1 (collagen triple helix repeat containing 1) Homo sapiens
Analyze
Symbol: CTHRC1
Name: collagen triple helix repeat containing 1
RGD ID: 1352911
HGNC Page HGNC
Description: Predicted to have Wnt-protein binding activity and frizzled binding activity. Predicted to be an extracellular matrix structural constituent. Predicted to be involved in several processes, including establishment of planar polarity involved in neural tube closure; inner ear development; and ossification involved in bone remodeling. Localizes to extracellular space. Implicated in Barrett's esophagus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: collagen triple helix repeat-containing protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: CTHRC1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8103,371,538 - 103,382,989 (+)EnsemblGRCh38hg38GRCh38
GRCh388103,371,538 - 103,382,989 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378104,383,766 - 104,395,217 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368104,452,962 - 104,464,393 (+)NCBINCBI36hg18NCBI36
Build 348104,452,961 - 104,464,391NCBI
Celera8100,570,330 - 100,581,762 (+)NCBI
Cytogenetic Map8q22.3NCBI
HuRef899,584,145 - 99,595,635 (+)NCBIHuRef
CHM1_18104,424,548 - 104,436,037 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:12477932   PMID:12975309   PMID:15340161   PMID:15489334   PMID:15618538   PMID:16778098   PMID:18467647   PMID:19730683   PMID:21791690   PMID:22590977   PMID:23222813   PMID:23274062  
PMID:23359115   PMID:23658133   PMID:23703614   PMID:23922981   PMID:24370779   PMID:24504172   PMID:24705354   PMID:24726140   PMID:24746208   PMID:24841500   PMID:24945147   PMID:25139095  
PMID:25238260   PMID:25263696   PMID:25510669   PMID:26180054   PMID:26452130   PMID:26664254   PMID:26722469   PMID:26918341   PMID:27043295   PMID:27068509   PMID:27230801   PMID:27323076  
PMID:27375898   PMID:27430622   PMID:27599582   PMID:27718266   PMID:27779718   PMID:27870703   PMID:28005267   PMID:28277194   PMID:28281968   PMID:28303973   PMID:28645305   PMID:28675934  
PMID:28697793   PMID:28854193   PMID:28901303   PMID:29021002   PMID:29393342   PMID:29631554   PMID:29970438   PMID:30021884   PMID:30302922   PMID:30336754   PMID:30341526   PMID:30381261  
PMID:30581152   PMID:30628714   PMID:31119444   PMID:31249576   PMID:31545446   PMID:31586073   PMID:31787549   PMID:31855733   PMID:32102754   PMID:32432749  


Genomics

Comparative Map Data
CTHRC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8103,371,538 - 103,382,989 (+)EnsemblGRCh38hg38GRCh38
GRCh388103,371,538 - 103,382,989 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378104,383,766 - 104,395,217 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368104,452,962 - 104,464,393 (+)NCBINCBI36hg18NCBI36
Build 348104,452,961 - 104,464,391NCBI
Celera8100,570,330 - 100,581,762 (+)NCBI
Cytogenetic Map8q22.3NCBI
HuRef899,584,145 - 99,595,635 (+)NCBIHuRef
CHM1_18104,424,548 - 104,436,037 (+)NCBICHM1_1
Cthrc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391538,940,327 - 38,950,516 (+)NCBIGRCm39mm39
GRCm39 Ensembl1538,940,327 - 38,950,516 (+)Ensembl
GRCm381539,076,932 - 39,087,121 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1539,076,932 - 39,087,121 (+)EnsemblGRCm38mm10GRCm38
MGSCv371538,908,478 - 38,918,665 (+)NCBIGRCm37mm9NCBIm37
MGSCv361538,906,933 - 38,917,195 (+)NCBImm8
Celera1539,563,883 - 39,573,915 (+)NCBICelera
Cytogenetic Map15B3.1NCBI
Cthrc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2770,122,474 - 70,132,756 (+)NCBI
Rnor_6.0 Ensembl777,966,722 - 77,977,004 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0777,966,722 - 77,977,004 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0778,271,770 - 78,282,052 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4774,630,044 - 74,640,324 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1774,650,773 - 74,661,054 (+)NCBI
Celera767,178,934 - 67,189,216 (+)NCBICelera
Cytogenetic Map7q31NCBI
Cthrc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541727,520,420 - 27,525,907 (+)NCBIChiLan1.0ChiLan1.0
CTHRC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18102,182,944 - 102,194,445 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8102,182,944 - 102,194,445 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08100,027,417 - 100,038,945 (+)NCBIMhudiblu_PPA_v0panPan3
CTHRC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1134,801,049 - 4,811,565 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl134,805,577 - 4,811,282 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha134,804,416 - 4,815,108 (+)NCBI
ROS_Cfam_1.0134,964,918 - 4,975,641 (+)NCBI
UMICH_Zoey_3.1134,805,272 - 4,815,967 (+)NCBI
UNSW_CanFamBas_1.0134,923,227 - 4,933,925 (+)NCBI
UU_Cfam_GSD_1.0134,935,964 - 4,946,667 (+)NCBI
Cthrc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530332,955,116 - 32,965,990 (-)NCBI
SpeTri2.0NW_00493647040,381,215 - 40,392,105 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CTHRC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl433,759,542 - 33,771,582 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1433,759,541 - 33,771,625 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2436,579,490 - 36,591,565 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CTHRC1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1898,227,661 - 98,239,984 (+)NCBI
ChlSab1.1 Ensembl898,227,705 - 98,240,753 (+)Ensembl
Cthrc1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476319,917,199 - 19,925,824 (+)NCBI

Position Markers
RH102528  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378104,394,752 - 104,394,888UniSTSGRCh37
Build 368104,463,928 - 104,464,064RGDNCBI36
Celera8100,581,297 - 100,581,433RGD
Cytogenetic Map8q22.3UniSTS
HuRef899,595,154 - 99,595,290UniSTS
GeneMap99-GB4 RH Map8437.16UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:330
Count of miRNA genes:144
Interacting mature miRNAs:151
Transcripts:ENST00000330295, ENST00000415886, ENST00000520337, ENST00000520880
Prediction methods:Microtar, 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 2 13
Medium 212 1276 406 151 114 71 2704 105 603 133 355 676 87 992 1696 2
Low 2158 838 1066 230 734 151 1513 1839 2905 223 1049 904 84 1 212 961 1 1
Below cutoff 54 724 248 238 840 239 134 250 201 57 31 25 2 131 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC069351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI743774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY136825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI763295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG005336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG005337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000330295   ⟹   ENSP00000330523
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,371,538 - 103,382,989 (+)Ensembl
RefSeq Acc Id: ENST00000415886   ⟹   ENSP00000416045
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,371,550 - 103,376,051 (+)Ensembl
RefSeq Acc Id: ENST00000520337   ⟹   ENSP00000430550
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,372,433 - 103,382,989 (+)Ensembl
RefSeq Acc Id: ENST00000520880   ⟹   ENSP00000430399
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,377,138 - 103,382,614 (+)Ensembl
RefSeq Acc Id: NM_001256099   ⟹   NP_001243028
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388103,372,507 - 103,382,989 (+)NCBI
GRCh378104,383,743 - 104,395,233 (+)NCBI
HuRef899,584,145 - 99,595,635 (+)NCBI
CHM1_18104,425,466 - 104,436,037 (+)NCBI
Sequence:
RefSeq Acc Id: NM_138455   ⟹   NP_612464
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388103,371,538 - 103,382,989 (+)NCBI
GRCh378104,383,743 - 104,395,233 (+)NCBI
Build 368104,452,962 - 104,464,393 (+)NCBI Archive
Celera8100,570,330 - 100,581,762 (+)RGD
HuRef899,584,145 - 99,595,635 (+)NCBI
CHM1_18104,424,548 - 104,436,037 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516824   ⟹   XP_011515126
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388103,371,550 - 103,382,541 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_612464   ⟸   NM_138455
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96CG8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243028   ⟸   NM_001256099
- Peptide Label: isoform 2
- UniProtKB: Q96CG8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515126   ⟸   XM_011516824
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000416045   ⟸   ENST00000415886
RefSeq Acc Id: ENSP00000430550   ⟸   ENST00000520337
RefSeq Acc Id: ENSP00000430399   ⟸   ENST00000520880
RefSeq Acc Id: ENSP00000330523   ⟸   ENST00000330295
Protein Domains
Collagen-like

Promoters
RGD ID:7213943
Promoter ID:EPDNEW_H12717
Type:initiation region
Name:CTHRC1_1
Description:collagen triple helix repeat containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12718  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388103,371,550 - 103,371,610EPDNEW
RGD ID:7213945
Promoter ID:EPDNEW_H12718
Type:initiation region
Name:CTHRC1_2
Description:collagen triple helix repeat containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12717  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388103,372,520 - 103,372,580EPDNEW
RGD ID:6806666
Promoter ID:HG_KWN:61868
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000297577
Position:
Human AssemblyChrPosition (strand)Source
Build 368104,452,656 - 104,453,156 (+)MPROMDB
RGD ID:6806584
Promoter ID:HG_KWN:61867
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:ENST00000330295
Position:
Human AssemblyChrPosition (strand)Source
Build 368104,452,829 - 104,453,329 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_138455.4(CTHRC1):c.131A>C (p.Gln44Pro) single nucleotide variant Barrett esophagus/esophageal adenocarcinoma [RCV000023833] Chr8:103371787 [GRCh38]
Chr8:104384015 [GRCh37]
Chr8:8q22.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_138455.4(CTHRC1):c.372+1G>T single nucleotide variant Barrett esophagus [RCV001292860] Chr8:103375960 [GRCh38]
Chr8:104388188 [GRCh37]
Chr8:8q22.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1 copy number loss See cases [RCV000134099] Chr8:101884819..107356143 [GRCh38]
Chr8:102897047..108368371 [GRCh37]
Chr8:102966223..108437547 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1 copy number loss See cases [RCV000136812] Chr8:101199826..105802098 [GRCh38]
Chr8:102212054..106814326 [GRCh37]
Chr8:102281230..106883502 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1 copy number loss See cases [RCV000138134] Chr8:101171263..109127664 [GRCh38]
Chr8:102183491..110139893 [GRCh37]
Chr8:102252667..110209069 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1 copy number loss See cases [RCV000141697] Chr8:100179408..106524667 [GRCh38]
Chr8:101191636..107536895 [GRCh37]
Chr8:101260812..107606071 [NCBI36]
Chr8:8q22.2-23.1
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q22.3(chr8:104221791-104770147)x3 copy number gain not provided [RCV000682982] Chr8:104221791..104770147 [GRCh37]
Chr8:8q22.3
uncertain significance
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.3(chr8:103950997-104487840)x3 copy number gain not provided [RCV000747746] Chr8:103950997..104487840 [GRCh37]
Chr8:8q22.3
benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18831 AgrOrtholog
COSMIC CTHRC1 COSMIC
Ensembl Genes ENSG00000164932 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000330523 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000416045 UniProtKB/TrEMBL
  ENSP00000430399 UniProtKB/TrEMBL
  ENSP00000430550 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000330295 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000415886 UniProtKB/TrEMBL
  ENST00000520337 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000520880 UniProtKB/TrEMBL
GTEx ENSG00000164932 GTEx
HGNC ID HGNC:18831 ENTREZGENE
Human Proteome Map CTHRC1 Human Proteome Map
InterPro Collagen UniProtKB/TrEMBL
KEGG Report hsa:115908 UniProtKB/Swiss-Prot
NCBI Gene 115908 ENTREZGENE
OMIM 610635 OMIM
  614266 OMIM
Pfam Collagen UniProtKB/TrEMBL
PharmGKB PA38701 PharmGKB
UniProt CTHR1_HUMAN UniProtKB/Swiss-Prot
  E5RK99_HUMAN UniProtKB/TrEMBL
  E7EVQ5_HUMAN UniProtKB/TrEMBL
  Q96CG8 ENTREZGENE
UniProt Secondary G3V141 UniProtKB/Swiss-Prot
  Q6UW91 UniProtKB/Swiss-Prot
  Q8IX63 UniProtKB/Swiss-Prot