Evidence Details for GJD4
Basic Information Top
| Gene Symbol: | GJD4 ( CX40.1,FLJ90023,RP11-425A6.2 ) |
|---|---|
| Gene Full Name: | gap junction protein, delta 4, 40.1kDa |
| Band: | 10p11.21 |
| Quick Links | Entrez ID:219770; OMIM: 611922; Uniprot ID:CXD4_HUMAN; ENSEMBL ID: ENSG00000177291; HGNC ID: 23296 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GJD4|219770|nucleotide
ATGGAAGGCGTGGACTTGCTAGGGTTTCTCATCATCACATTAAACTGCAACGTGACCATGGTGGGAAAGCTCTGGTTCGTCCTCACGATGCTGCTGCGGATGCTG
GTGATTGTCTTGGCGGGGCGACCCGTCTACCAGGACGAGCAGGAGAGGTTTGTCTGCAACACGCTGCAGCCGGGATGCGCCAATGTTTGCTACGACGTCTTCTCC
CCCGTGTCTCACCTGCGGTTCTGGCTGATCCAGGGCGTGTGCGTCCTCCTCCCCTCCGCCGTCTTCAGCGTCTATGTCCTGCACCGAGGAGCCACGCTCGCCGCG
CTGGGCCCCCGCCGCTGCCCCGACCCCCGGGAGCCGGCCTCCGGGCAGAGACGCTGCCCGCGGCCATTCGGGGAGCGCGGCGGCCTCCAGGTGCCCGACTTTTCG
GCCGGCTACATCATCCACCTCCTCCTCCGGACCCTGCTGGAGGCAGCCTTCGGGGCCTTGCACTACTTTCTCTTTGGATTCCTGGCCCCGAAGAAGTTCCCTTGC
ACGCGCCCTCCGTGCACGGGCGTGGTGGACTGCTACGTGTCGCGGCCCACAGAGAAGTCCCTGCTGATGCTGTTCCTCTGGGCGGTCAGCGCGCTGTCTTTTCTG
CTGGGCCTCGCCGACCTGGTCTGCAGCCTGCGGCGGCGGATGCGCAGGAGGCCGGGACCCCCCACAAGCCCCTCCATCCGGAAGCAGAGCGGAGCCTCAGGCCAC
GCGGAGGGACGCCGGACTGACGAGGAGGGTGGGCGGGAGGAAGAGGGGGCACCGGCGCCCCCGGGTGCACGCGCCGGAGGGGAGGGGGCTGGCAGCCCCAGGCGT
ACATCCAGGGTGTCAGGGCACACGAAGATTCCGGATGAGGATGAGAGTGAGGTGACATCCTCCGCCAGCGAAAAGCTGGGCAGACAGCCCCGGGGCAGGCCCCAC
CGAGAGGCCGCCCAGGACCCCAGGGGCTCAGGATCCGAGGAGCAGCCCTCAGCAGCCCCCAGCCGCCTGGCCGCGCCCCCTTCCTGCAGCAGCCTGCAGCCCCCT
GACCCGCCTGCCAGCTCCAGTGGTGCTCCCCACCTGAGAGCCAGGAAGTCTGAGTGGGTGTGA
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ATGGAAGGCGTGGACTTGCTAGGGTTTCTCATCATCACATTAAACTGCAACGTGACCATGGTGGGAAAGCTCTGGTTCGTCCTCACGATGCTGCTGCGGATGCTG
GTGATTGTCTTGGCGGGGCGACCCGTCTACCAGGACGAGCAGGAGAGGTTTGTCTGCAACACGCTGCAGCCGGGATGCGCCAATGTTTGCTACGACGTCTTCTCC
CCCGTGTCTCACCTGCGGTTCTGGCTGATCCAGGGCGTGTGCGTCCTCCTCCCCTCCGCCGTCTTCAGCGTCTATGTCCTGCACCGAGGAGCCACGCTCGCCGCG
CTGGGCCCCCGCCGCTGCCCCGACCCCCGGGAGCCGGCCTCCGGGCAGAGACGCTGCCCGCGGCCATTCGGGGAGCGCGGCGGCCTCCAGGTGCCCGACTTTTCG
GCCGGCTACATCATCCACCTCCTCCTCCGGACCCTGCTGGAGGCAGCCTTCGGGGCCTTGCACTACTTTCTCTTTGGATTCCTGGCCCCGAAGAAGTTCCCTTGC
ACGCGCCCTCCGTGCACGGGCGTGGTGGACTGCTACGTGTCGCGGCCCACAGAGAAGTCCCTGCTGATGCTGTTCCTCTGGGCGGTCAGCGCGCTGTCTTTTCTG
CTGGGCCTCGCCGACCTGGTCTGCAGCCTGCGGCGGCGGATGCGCAGGAGGCCGGGACCCCCCACAAGCCCCTCCATCCGGAAGCAGAGCGGAGCCTCAGGCCAC
GCGGAGGGACGCCGGACTGACGAGGAGGGTGGGCGGGAGGAAGAGGGGGCACCGGCGCCCCCGGGTGCACGCGCCGGAGGGGAGGGGGCTGGCAGCCCCAGGCGT
ACATCCAGGGTGTCAGGGCACACGAAGATTCCGGATGAGGATGAGAGTGAGGTGACATCCTCCGCCAGCGAAAAGCTGGGCAGACAGCCCCGGGGCAGGCCCCAC
CGAGAGGCCGCCCAGGACCCCAGGGGCTCAGGATCCGAGGAGCAGCCCTCAGCAGCCCCCAGCCGCCTGGCCGCGCCCCCTTCCTGCAGCAGCCTGCAGCCCCCT
GACCCGCCTGCCAGCTCCAGTGGTGCTCCCCACCTGAGAGCCAGGAAGTCTGAGTGGGTGTGA
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>GJD4|219770|protein
MEGVDLLGFLIITLNCNVTMVGKLWFVLTMLLRMLVIVLAGRPVYQDEQERFVCNTLQPGCANVCYDVFSPVSHLRFWLIQGVCVLLPSAVFSVYVLHRGATLAA
LGPRRCPDPREPASGQRRCPRPFGERGGLQVPDFSAGYIIHLLLRTLLEAAFGALHYFLFGFLAPKKFPCTRPPCTGVVDCYVSRPTEKSLLMLFLWAVSALSFL
LGLADLVCSLRRRMRRRPGPPTSPSIRKQSGASGHAEGRRTDEEGGREEEGAPAPPGARAGGEGAGSPRRTSRVSGHTKIPDEDESEVTSSASEKLGRQPRGRPH
REAAQDPRGSGSEEQPSAAPSRLAAPPSCSSLQPPDPPASSSGAPHLRARKSEWV
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MEGVDLLGFLIITLNCNVTMVGKLWFVLTMLLRMLVIVLAGRPVYQDEQERFVCNTLQPGCANVCYDVFSPVSHLRFWLIQGVCVLLPSAVFSVYVLHRGATLAA
LGPRRCPDPREPASGQRRCPRPFGERGGLQVPDFSAGYIIHLLLRTLLEAAFGALHYFLFGFLAPKKFPCTRPPCTGVVDCYVSRPTEKSLLMLFLWAVSALSFL
LGLADLVCSLRRRMRRRPGPPTSPSIRKQSGASGHAEGRRTDEEGGREEEGAPAPPGARAGGEGAGSPRRTSRVSGHTKIPDEDESEVTSSASEKLGRQPRGRPH
REAAQDPRGSGSEEQPSAAPSRLAAPPSCSSLQPPDPPASSSGAPHLRARKSEWV
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (1) | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Spence, 2006 | USA | microsatellite-based genomic screen | | | ASD | 133 | - | 133 | - | 280 | - | - |
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | | | autism | - | - | - | - | 12 | 44 | 56 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.