Evidence Details for NPDC1
Basic Information Top
| Gene Symbol: | NPDC1 ( CAB,CAB-,CAB-1,CAB1,DKFZp586J0523 ) |
|---|---|
| Gene Full Name: | neural proliferation, differentiation and control, 1 |
| Band: | 9q34.3 |
| Quick Links | Entrez ID:56654; OMIM: 605798; Uniprot ID:NPDC1_HUMAN; ENSEMBL ID: ENSG00000107281; HGNC ID: 7899 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>NPDC1|56654|nucleotide
ATGGCGACGCCGCTGCCTCCGCCCTCCCCGCGGCACCTGCGGCTGCTGCGGCTGCTGCTCTCCGGCCTCGTCCTCGGCGCCGCCCTGCGTGGAGCCGCCGCCGGC
CACCCGGATGTAGCCGCCTGTCCCGGGAGCCTGGACTGTGCCCTGAAGAGGCGGGCAAGGTGTCCTCCTGGTGCACATGCCTGTGGGCCCTGCCTTCAGCCCTTC
CAGGAGGACCAGCAAGGGCTCTGTGTGCCCAGGATGCGCCGGCCTCCAGGCGGGGGCCGGCCCCAGCCCAGACTGGAAGATGAGATTGACTTCCTGGCCCAGGAG
CTTGCCCGGAAGGAGTCTGGACACTCAACTCCGCCCCTACCCAAGGACCGACAGCGGCTCCCGGAGCCTGCCACCCTGGGCTTCTCGGCACGGGGGCAGGGGCTG
GAGCTGGGCCTCCCCTCCACTCCAGGAACCCCCACGCCCACGCCCCACACCTCCCTGGGCTCCCCTGTGTCATCCGACCCGGTGCACATGTCGCCCCTGGAGCCC
CGGGGAGGGCAAGGCGACGGCCTCGCCCTTGTGCTGATCCTGGCGTTCTGTGTGGCCGGTGCAGCCGCCCTCTCCGTAGCCTCCCTCTGCTGGTGCAGGCTGCAG
CGTGAGATCCGCCTGACTCAGAAGGCCGACTACGCCACTGCGAAGGCCCCTGGCTCACCTGCAGCTCCCCGGATCTCGCCTGGGGACCAGCGGCTGGCACAGAGC
GCGGAGATGTACCACTACCAGCACCAACGGCAACAGATGCTGTGCCTGGAGCGGCATAAAGAGCCACCCAAGGAGCTGGACACGGCCTCCTCGGATGAGGAGAAT
GAGGACGGAGACTTCACGGTGTACGAGTGCCCGGGCCTGGCCCCGACCGGGGAAATGGAGGTGCGCAACCCTCTGTTCGACCACGCCGCACTGTCCGCGCCCCTG
CCGGCCCCCAGCTCACCGCCTGCACTGCCATGA
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ATGGCGACGCCGCTGCCTCCGCCCTCCCCGCGGCACCTGCGGCTGCTGCGGCTGCTGCTCTCCGGCCTCGTCCTCGGCGCCGCCCTGCGTGGAGCCGCCGCCGGC
CACCCGGATGTAGCCGCCTGTCCCGGGAGCCTGGACTGTGCCCTGAAGAGGCGGGCAAGGTGTCCTCCTGGTGCACATGCCTGTGGGCCCTGCCTTCAGCCCTTC
CAGGAGGACCAGCAAGGGCTCTGTGTGCCCAGGATGCGCCGGCCTCCAGGCGGGGGCCGGCCCCAGCCCAGACTGGAAGATGAGATTGACTTCCTGGCCCAGGAG
CTTGCCCGGAAGGAGTCTGGACACTCAACTCCGCCCCTACCCAAGGACCGACAGCGGCTCCCGGAGCCTGCCACCCTGGGCTTCTCGGCACGGGGGCAGGGGCTG
GAGCTGGGCCTCCCCTCCACTCCAGGAACCCCCACGCCCACGCCCCACACCTCCCTGGGCTCCCCTGTGTCATCCGACCCGGTGCACATGTCGCCCCTGGAGCCC
CGGGGAGGGCAAGGCGACGGCCTCGCCCTTGTGCTGATCCTGGCGTTCTGTGTGGCCGGTGCAGCCGCCCTCTCCGTAGCCTCCCTCTGCTGGTGCAGGCTGCAG
CGTGAGATCCGCCTGACTCAGAAGGCCGACTACGCCACTGCGAAGGCCCCTGGCTCACCTGCAGCTCCCCGGATCTCGCCTGGGGACCAGCGGCTGGCACAGAGC
GCGGAGATGTACCACTACCAGCACCAACGGCAACAGATGCTGTGCCTGGAGCGGCATAAAGAGCCACCCAAGGAGCTGGACACGGCCTCCTCGGATGAGGAGAAT
GAGGACGGAGACTTCACGGTGTACGAGTGCCCGGGCCTGGCCCCGACCGGGGAAATGGAGGTGCGCAACCCTCTGTTCGACCACGCCGCACTGTCCGCGCCCCTG
CCGGCCCCCAGCTCACCGCCTGCACTGCCATGA
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>NPDC1|56654|protein
MATPLPPPSPRHLRLLRLLLSGLVLGAALRGAAAGHPDVAACPGSLDCALKRRARCPPGAHACGPCLQPFQEDQQGLCVPRMRRPPGGGRPQPRLEDEIDFLAQE
LARKESGHSTPPLPKDRQRLPEPATLGFSARGQGLELGLPSTPGTPTPTPHTSLGSPVSSDPVHMSPLEPRGGQGDGLALVLILAFCVAGAAALSVASLCWCRLQ
REIRLTQKADYATAKAPGSPAAPRISPGDQRLAQSAEMYHYQHQRQQMLCLERHKEPPKELDTASSDEENEDGDFTVYECPGLAPTGEMEVRNPLFDHAALSAPL
PAPSSPPALP
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MATPLPPPSPRHLRLLRLLLSGLVLGAALRGAAAGHPDVAACPGSLDCALKRRARCPPGAHACGPCLQPFQEDQQGLCVPRMRRPPGGGRPQPRLEDEIDFLAQE
LARKESGHSTPPLPKDRQRLPEPATLGFSARGQGLELGLPSTPGTPTPTPHTSLGSPVSSDPVHMSPLEPRGGQGDGLALVLILAFCVAGAAALSVASLCWCRLQ
REIRLTQKADYATAKAPGSPAAPRISPGDQRLAQSAEMYHYQHQRQQMLCLERHKEPPKELDTASSDEENEDGDFTVYECPGLAPTGEMEVRNPLFDHAALSAPL
PAPSSPPALP
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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 (0) | 0 (2) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 3 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Gregory, 2009 | USA | aCGH |  |  | ASD | - | - | - | - | 119 | 54 | 173 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top