Evidence Details for DLX4
Basic Information Top
Gene Symbol: | DLX4 ( BP1,DLX7,DLX8,DLX9 ) |
---|---|
Gene Full Name: | distal-less homeobox 4 |
Band: | 17q21.33 |
Quick Links | Entrez ID:1748; OMIM: 601911; Uniprot ID:DLX4_HUMAN; ENSEMBL ID: ENSG00000108813; HGNC ID: 2917 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>DLX4|1748|nucleotide
ATGAAACTGTCCGTCCTACCCCCTCGCTCCCTCCTCGCCCCCTACACCGTGTTGTGCTGCCCACCAGACTCGGAGAAGCCGCGGCTGTCCCCGGAACCCTCCGAG
CGGCGCCCTCAGGCCCCCGCCAAAAAGCTCCGCAAGCCGAGGACCATCTACTCCAGCCTGCAGCTGCAGCACCTAAACCAGCGTTTCCAGCACACGCAGTACCTG
GCGCTGCCCGAGAGGGCCCAGCTGGCAGCGCAGCTCGGCCTCACCCAGACCCAGGTAAAGATCTGGTTTCAGAACAAACGCTCCAAGTATAAGAAGCTCCTGAAG
CAGAATTCTGGGGGGCAGGAAGGGGACTTCCCTGGGAGGACCTTCTCTGTGTCTCCCTGCTCCCCACCCCTCCCCTCCCTCTGGGATCTACCCAAGGCAGGGACC
CTGCCCACCAGTGGCTATGGCAACAGCTTTGGAGCCTGGTATCAGCATCACTCCTCAGATGTCCTGGCTTCGCCTCAGATGATGTGA
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ATGAAACTGTCCGTCCTACCCCCTCGCTCCCTCCTCGCCCCCTACACCGTGTTGTGCTGCCCACCAGACTCGGAGAAGCCGCGGCTGTCCCCGGAACCCTCCGAG
CGGCGCCCTCAGGCCCCCGCCAAAAAGCTCCGCAAGCCGAGGACCATCTACTCCAGCCTGCAGCTGCAGCACCTAAACCAGCGTTTCCAGCACACGCAGTACCTG
GCGCTGCCCGAGAGGGCCCAGCTGGCAGCGCAGCTCGGCCTCACCCAGACCCAGGTAAAGATCTGGTTTCAGAACAAACGCTCCAAGTATAAGAAGCTCCTGAAG
CAGAATTCTGGGGGGCAGGAAGGGGACTTCCCTGGGAGGACCTTCTCTGTGTCTCCCTGCTCCCCACCCCTCCCCTCCCTCTGGGATCTACCCAAGGCAGGGACC
CTGCCCACCAGTGGCTATGGCAACAGCTTTGGAGCCTGGTATCAGCATCACTCCTCAGATGTCCTGGCTTCGCCTCAGATGATGTGA
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>DLX4|1748|protein
MKLSVLPPRSLLAPYTVLCCPPDSEKPRLSPEPSERRPQAPAKKLRKPRTIYSSLQLQHLNQRFQHTQYLALPERAQLAAQLGLTQTQVKIWFQNKRSKYKKLLK
QNSGGQEGDFPGRTFSVSPCSPPLPSLWDLPKAGTLPTSGYGNSFGAWYQHHSSDVLASPQMM
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MKLSVLPPRSLLAPYTVLCCPPDSEKPRLSPEPSERRPQAPAKKLRKPRTIYSSLQLQHLNQRFQHTQYLALPERAQLAAQLGLTQTQVKIWFQNKRSKYKKLLK
QNSGGQEGDFPGRTFSVSPCSPPLPSLWDLPKAGTLPTSGYGNSFGAWYQHHSSDVLASPQMM
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Evidence summary Top
Click 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 (0) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 2
Reference | Source | Platform | #Families | Affecteds | Result | |||||
---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
CAUCASIAN | ||||||||||
Chang, 2010_1 | USA | the Sequenom iPLEX platform | 715 | 1372 (20.00%) | ASD | - - |
- - | |||
MIXED/OTHERS | ||||||||||
Chang, 2011_1 | USA | Affymetrix | 715 | 1372 (20.00%) | ASD | - - |
- - |
Case Control Based Association Studies: 0
Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
No Evidence. |
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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