Evidence Details for DAB1
Basic Information Top
| Gene Symbol: | DAB1 ( - ) |
|---|---|
| Gene Full Name: | disabled homolog 1 (Drosophila) |
| Band: | 1p32.2 |
| Quick Links | Entrez ID:1600; OMIM: 603448; Uniprot ID:DAB1_HUMAN; ENSEMBL ID: ENSG00000173406; HGNC ID: 2661 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>DAB1|1600|nucleotide
ATGTCAACTGAGACAGAACTTCAAGTAGCTGTGAAAACCAGCGCCAAGAAAGACTCCAGAAAGAAAGGTCAGGATCGCAGTGAAGCCACTTTGATAAAGAGGTTT
AAAGGTGAAGGGGTCCGGTACAAAGCCAAATTGATCGGGATTGATGAAGTTTCCGCAGCTCGGGGAGACAAGTTATGTCAAGATTCCATGATGAAACTCAAGGGC
GTTGTTGCTGGCGCTCGTTCCAAAGGAGAACACAAACAGAAAATCTTTTTAACCATCTCCTTTGGAGGAATCAAAATCTTTGATGAGAAGACAGGGGCCCTTCAG
CATCATCATGCTGTTCATGAAATATCCTACATTGCAAAGGACATTACAGATCACCGGGCCTTTGGATATGTTTGTGGGAAGGAAGGGAATCACAGATTTGTGGCC
ATAAAAACAGCCCAGGCGGCTGAACCTGTTATTCTGGACTTGAGAGATCTCTTTCAACTCATTTATGAATTGAAGCAAAGAGAAGAATTAGAAAAAAAGGCACAA
AAGGATAAGCAGTGTGAACAAGCTGTGTACCAGACAATATTGGAAGAGGATGTTGAAGATCCTGTGTACCAGTACATTGTGTTTGAGGCTGGACACGAGCCAATC
CGTGATCCCGAAACGGAAGAAAACATTTATCAGGTTCCCACCAGCCAAAAGAAGGAAGGTGTTTATGATGTGCCAAAAAGTCAACCTGTAAGTGCTGTGACCCAA
TTAGAACTTTTTGGGGACATGTCCACACCCCCTGATATAACCTCTCCCCCCACTCCTGCAACTCCAGGTGATGCCTTTATCCCATCTTCATCTCAGACCCTTCCA
GCGAGTGCAGATGTGTTTAGTTCTGTACCTTTCGGCACTGCTGCTGTACCCTCAGGTTACGTTGCAATGGGCGCTGTCCTCCCGTCCTTCTGGGGTCAGCAGCCC
CTCGTCCAACAGCAGATGGTCATGGGTGCCCAGCCACCAGTCGCTCAGGTGATGCCGGGGGCTCAGCCCATCGCATGGGGCCAGCCGGGTCTCTTTCCTGCCACT
CAGCAGCCCTGGCCAACTGTGGCCGGGCAGTTTCCGCCAGCCGCCTTCATGCCCACACAAACTGTTATGCCTTTGCCAGCTGCCATGTTCCAAGGTCCCCTCACC
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ATGTCAACTGAGACAGAACTTCAAGTAGCTGTGAAAACCAGCGCCAAGAAAGACTCCAGAAAGAAAGGTCAGGATCGCAGTGAAGCCACTTTGATAAAGAGGTTT
AAAGGTGAAGGGGTCCGGTACAAAGCCAAATTGATCGGGATTGATGAAGTTTCCGCAGCTCGGGGAGACAAGTTATGTCAAGATTCCATGATGAAACTCAAGGGC
GTTGTTGCTGGCGCTCGTTCCAAAGGAGAACACAAACAGAAAATCTTTTTAACCATCTCCTTTGGAGGAATCAAAATCTTTGATGAGAAGACAGGGGCCCTTCAG
CATCATCATGCTGTTCATGAAATATCCTACATTGCAAAGGACATTACAGATCACCGGGCCTTTGGATATGTTTGTGGGAAGGAAGGGAATCACAGATTTGTGGCC
ATAAAAACAGCCCAGGCGGCTGAACCTGTTATTCTGGACTTGAGAGATCTCTTTCAACTCATTTATGAATTGAAGCAAAGAGAAGAATTAGAAAAAAAGGCACAA
AAGGATAAGCAGTGTGAACAAGCTGTGTACCAGACAATATTGGAAGAGGATGTTGAAGATCCTGTGTACCAGTACATTGTGTTTGAGGCTGGACACGAGCCAATC
CGTGATCCCGAAACGGAAGAAAACATTTATCAGGTTCCCACCAGCCAAAAGAAGGAAGGTGTTTATGATGTGCCAAAAAGTCAACCTGTAAGTGCTGTGACCCAA
TTAGAACTTTTTGGGGACATGTCCACACCCCCTGATATAACCTCTCCCCCCACTCCTGCAACTCCAGGTGATGCCTTTATCCCATCTTCATCTCAGACCCTTCCA
GCGAGTGCAGATGTGTTTAGTTCTGTACCTTTCGGCACTGCTGCTGTACCCTCAGGTTACGTTGCAATGGGCGCTGTCCTCCCGTCCTTCTGGGGTCAGCAGCCC
CTCGTCCAACAGCAGATGGTCATGGGTGCCCAGCCACCAGTCGCTCAGGTGATGCCGGGGGCTCAGCCCATCGCATGGGGCCAGCCGGGTCTCTTTCCTGCCACT
CAGCAGCCCTGGCCAACTGTGGCCGGGCAGTTTCCGCCAGCCGCCTTCATGCCCACACAAACTGTTATGCCTTTGCCAGCTGCCATGTTCCAAGGTCCCCTCACC
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>DAB1|1600|protein
MSTETELQVAVKTSAKKDSRKKGQDRSEATLIKRFKGEGVRYKAKLIGIDEVSAARGDKLCQDSMMKLKGVVAGARSKGEHKQKIFLTISFGGIKIFDEKTGALQ
HHHAVHEISYIAKDITDHRAFGYVCGKEGNHRFVAIKTAQAAEPVILDLRDLFQLIYELKQREELEKKAQKDKQCEQAVYQTILEEDVEDPVYQYIVFEAGHEPI
RDPETEENIYQVPTSQKKEGVYDVPKSQPVSAVTQLELFGDMSTPPDITSPPTPATPGDAFIPSSSQTLPASADVFSSVPFGTAAVPSGYVAMGAVLPSFWGQQP
LVQQQMVMGAQPPVAQVMPGAQPIAWGQPGLFPATQQPWPTVAGQFPPAAFMPTQTVMPLPAAMFQGPLTPLATVPGTSDSTRSSPQTDKPRQKMGKETFKDFQM
AQPPPVPSRKPDQPSLTCTSEAFSSYFNKVGVAQDTDDCDDFDISQLNLTPVTSTTPSTNSPPTPAPRQSSPSKSSASHASDPTTDDIFEEGFESPSKSEEQEAP
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MSTETELQVAVKTSAKKDSRKKGQDRSEATLIKRFKGEGVRYKAKLIGIDEVSAARGDKLCQDSMMKLKGVVAGARSKGEHKQKIFLTISFGGIKIFDEKTGALQ
HHHAVHEISYIAKDITDHRAFGYVCGKEGNHRFVAIKTAQAAEPVILDLRDLFQLIYELKQREELEKKAQKDKQCEQAVYQTILEEDVEDPVYQYIVFEAGHEPI
RDPETEENIYQVPTSQKKEGVYDVPKSQPVSAVTQLELFGDMSTPPDITSPPTPATPGDAFIPSSSQTLPASADVFSSVPFGTAAVPSGYVAMGAVLPSFWGQQP
LVQQQMVMGAQPPVAQVMPGAQPIAWGQPGLFPATQQPWPTVAGQFPPAAFMPTQTVMPLPAAMFQGPLTPLATVPGTSDSTRSSPQTDKPRQKMGKETFKDFQM
AQPPPVPSRKPDQPSLTCTSEAFSSYFNKVGVAQDTDDCDDFDISQLNLTPVTSTTPSTNSPPTPAPRQSSPSKSSASHASDPTTDDIFEEGFESPSKSEEQEAP
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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 | 1 (1) | 0 (1) | 0 (0) | 2 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 8 (4) |
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 | |||||||||||
| Ma, 2009_1 | Discovery | Illumina's Human 1M v1 Beadchip | 438 | - (-) |  |  | 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 Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 1
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| ASIAN | ||||||||||
| Li J, 2013_1 | China | MassARRAY system | 239 | 239 (5.44%) | | | ASD | - - |
- - | |
Case Control Based Association Studies: 1
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| MIXED/OTHERS | |||||||||||
| Shen Y, 2016_1 | China | Illumina HumanHap CNV370K BeadChip | | | autistic | 5.08 - |
- | 1074 (-) |
- - | ||
Large 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.