cdh1

Ensembl ID:
ENSDARG00000024371
ZFIN ID:
ZDB-GENE-010606-1
Description:
cadherin 1, epithelial [Source:RefSeq peptide;Acc:NP_571895]
Human Orthologues:
CDH1, CDH3
Human Descriptions:
cadherin 1, type 1, E-cadherin (epithelial) [Source:HGNC Symbol;Acc:1748]
cadherin 3, type 1, P-cadherin (placental) [Source:HGNC Symbol;Acc:1762]
Mouse Orthologues:
Cdh1, Cdh3
Mouse Descriptions:
cadherin 1 Gene [Source:MGI Symbol;Acc:MGI:88354]
cadherin 3 Gene [Source:MGI Symbol;Acc:MGI:88356]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa2411 Splice Site, Nonsense Mutation detected in F1 DNA During 2016
sa41032 Splice Site, Nonsense Mutation detected in F1 DNA During 2016
sa5445 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa2411
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000097719 Splice Site, Nonsense 323 864 8 16
ENSDART00000147057   None 123 None 3
Genomic Location:
Chromosome 7 (position 56222333)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GAGCAGTTGCTGAATTTATTCTAGCAAGTTCATTCATCTTCCTCTTTCAG[C/T]AATGGTTCAGATATACTTTGGTTATTACGGCCACTGACATGAACGGAGAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa41032
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > A
Consequence:
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000097719 Splice Site, Nonsense 366 864 9 16
ENSDART00000147057   None 123 None 3
Genomic Location:
Chromosome 7 (position 56222590)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TAATTTTATTTGATTAAAACTCTCATACTGTATATTTCTTTGCTTTAGTA[C/A]ACTGTATCTGTCCCAGAGAATCAAGTAGGGGTTGAAGTGGCCAAACTTCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5445
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000097719 Nonsense 684 864 13 16
ENSDART00000147057   None 123 None 3
Genomic Location:
Chromosome 7 (position 56224317)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAGCAAGTGTGTGTGACTGCAAAGGAGAGGCATTCCAATGTACTGATAAA[C/T]AAGTAGCAGGGATTCCACTGTTTGGAGTTCTTGGTGTCCTGGGAGGAATC
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Colorectal cancer: Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. (View Study)
  • Ulcerative colitis: Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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