fance

Ensembl ID:
ENSDARG00000068870
ZFIN ID:
ZDB-GENE-060510-5
Description:
Fanconi anemia group E protein [Source:RefSeq peptide;Acc:NP_001035724]
Human Orthologue:
FANCE
Human Description:
Fanconi anemia, complementation group E [Source:HGNC Symbol;Acc:3586]
Mouse Orthologue:
Fance
Mouse Description:
Fanconi anemia, complementation group E Gene [Source:MGI Symbol;Acc:MGI:1920025]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa41199 Essential Splice Site Mutation detected in F1 DNA During 2016
sa9180 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa41199
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:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000099751 Essential Splice Site 428 502 9 10
Genomic Location (Zv9):
Chromosome 8 (position 24588931)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 23714749
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTAAAGGATGATTTAGCTGTATGTTAATGATTTCTGTTGCTATCCTCACA[G/A]CTTGAGTTGAGTCAAGAGGATTTCTGTCTCTTCGCTGAGCATCTTTGCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9180
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:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000099751 Nonsense 430 502 9 10
Genomic Location (Zv9):
Chromosome 8 (position 24588939)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 23714757
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGATTTAGCTGTATGTTAATGATTTCTGTTGCTATCCTCACAGCTTGAGT[T/A]GAGTCAAGAGGATTTCTGTCTCTTCGCTGAGCATCTTTGCAGCCAGTCTC
Associated Phenotype:
Not determined

GWAS

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

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

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