ENSDARG00000088733

Ensembl ID:
ENSDARG00000088733
Human Orthologues:
AL049692.1, EGR1, EGR2, EGR3, EGR4, WT1, WT1, WT1
Human Descriptions:
early growth response 1 [Source:HGNC Symbol;Acc:3238]
early growth response 2 [Source:HGNC Symbol;Acc:3239]
early growth response 3 [Source:HGNC Symbol;Acc:3240]
early growth response 4 [Source:HGNC Symbol;Acc:3241]
Wilms tumor 1 [Source:HGNC Symbol;Acc:12796]
Wilms tumor 1 [Source:HGNC Symbol;Acc:12796]
Wilms tumor 1 [Source:HGNC Symbol;Acc:12796]
Wilms tumor 1 [Source:UniProtKB/TrEMBL;Acc:A0FJ58]
Mouse Orthologues:
Egr1, Egr2, Egr3, Egr4, Wt1
Mouse Descriptions:
early growth response 1 Gene [Source:MGI Symbol;Acc:MGI:95295]
early growth response 2 Gene [Source:MGI Symbol;Acc:MGI:95296]
early growth response 3 Gene [Source:MGI Symbol;Acc:MGI:1306780]
early growth response 4 Gene [Source:MGI Symbol;Acc:MGI:99252]
Wilms tumor 1 homolog Gene [Source:MGI Symbol;Acc:MGI:98968]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa12755 Essential Splice Site Available for shipment Available now
sa20262 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa12755
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000106490 Essential Splice Site 15 289 1 2
Genomic Location:
Chromosome 4 (position 18992078)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCGGATGGAAGTGAAAGAGGAAAGTGAAGAACWGAGTGCAGATGAGAAAA[G/A]TCAGTATCAGGCAACCTAATTCAGGGTTTCTGTGGGTACTAAAAANNCTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20262
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 2014.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000106490 Nonsense 214 289 2 2
Genomic Location:
Chromosome 4 (position 18994933)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATGTTTGCTCGGTGTGCGGCAGCTGCTTTACTAAAGTGTACTATCTGCAA[C/T]AGCACCAAAGGATCCATACTGGAGAAAAACCGTACAAGTGTACACAATGT
Associated Phenotype:
Not determined

GWAS

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

  • Atopic dermatitis: Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. (View Study)
  • Ewing sarcoma: Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma. (View Study)
  • Temperament: A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales. (View Study)
  • Tuberculosis: Common variants at 11p13 are associated with susceptibility to tuberculosis. (View Study)

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

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/8orzzweo