Evidence Details for CABP1
Basic Information Top
| Gene Symbol: | CABP1 ( CALBRAIN,HCALB_BR ) |
|---|---|
| Gene Full Name: | calcium binding protein 1 |
| Band: | 12q24.31 |
| Quick Links | Entrez ID:9478; OMIM: 605563; Uniprot ID:CABP1_HUMAN; ENSEMBL ID: ENSG00000157782; HGNC ID: 1384 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CABP1|9478|nucleotide
ATGGGCGGCGGCGACGGGGCCGCATTTAAGCGGCCGGGGGACGGCGCCCGCCTCCAGCGCGTCCTCGGGCTTGGCTCCCGCCGGGAGCCCCGTTCTCTGCCCGCC
GGGGGCCCCGCGCCGCGCCGCACCGCGCCGCCCCCGCCGGGCCATGCGAGCGCGGGCCCCGCCGCGATGAGCTCGCACATCGCCAAAAGCGAGTCCAAGACGTCG
CTGCTGAAGGCGGCGGCGGCGGCGGCGAGCGGGGGCAGCCGGGCTCCCCGCCACGGCCCTGCCCGGGACCCGGGGCTGCCTAGCCGCCGGCTACCCGGCTCCTGC
CCGGCGACGCCGCAGTCGTCCGGGGACCCCAGTTCGCGGAGGCCCCTGTGCCGGCCGGCGCCGCGAGAGGAGGGCGCGCGGGGGAGCCAGCGTGTGCTCCCCCAG
GCGCACTGCAGGCCCCGGGAGGCGCTGCCGGCCGCGGCGTCCCGACCTTCGCCGTCGTCGCCGCTGCCGCCGGCCCGCGGGCGGGATGGGGAGGAACGGGGACTG
TCCCCGGCGCTCGGCCTCCGGGGCTCTCTGCGAGCCCGGGGCCGCGGGGACTCCGTTCCAGCCGCCGCGTCCGAGGCGGACCCGTTCCTCCACCGGCTGCGCCCC
ATGCTCAGCTCCGCCTTTGGCCAGGATAGATCACTGCGACCAGAGGAAATTGAAGAGCTCCGAGAGGCCTTCAGAGAATTCGACAAGGACAAGGATGGCTACATC
AACTGCCGGGATCTGGGCAACTGCATGCGCACCATGGGCTACATGCCCACCGAGATGGAGCTCATCGAACTGTCCCAGCAGATCAACATGAACCTGGGTGGCCAT
GTAGATTTTGATGACTTCGTGGAGCTAATGGGGCCTAAACTCCTGGCAGAGACAGCAGATATGATTGGTGTAAAGGAACTGCGAGATGCTTTCCGAGAGTTTGAC
ACCAATGGTGATGGGGAAATAAGCACCAGTGAGCTGCGAGAGGCTATGAGGAAGCTCCTGGGTCATCAGGTGGGACACCGAGACATAGAGGAAATTATCCGAGAT
GTGGACCTCAATGGGGATGGACGAGTGGACTTTGAAGAGTTTGTCCGGATGATGTCCCGCTGA
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ATGGGCGGCGGCGACGGGGCCGCATTTAAGCGGCCGGGGGACGGCGCCCGCCTCCAGCGCGTCCTCGGGCTTGGCTCCCGCCGGGAGCCCCGTTCTCTGCCCGCC
GGGGGCCCCGCGCCGCGCCGCACCGCGCCGCCCCCGCCGGGCCATGCGAGCGCGGGCCCCGCCGCGATGAGCTCGCACATCGCCAAAAGCGAGTCCAAGACGTCG
CTGCTGAAGGCGGCGGCGGCGGCGGCGAGCGGGGGCAGCCGGGCTCCCCGCCACGGCCCTGCCCGGGACCCGGGGCTGCCTAGCCGCCGGCTACCCGGCTCCTGC
CCGGCGACGCCGCAGTCGTCCGGGGACCCCAGTTCGCGGAGGCCCCTGTGCCGGCCGGCGCCGCGAGAGGAGGGCGCGCGGGGGAGCCAGCGTGTGCTCCCCCAG
GCGCACTGCAGGCCCCGGGAGGCGCTGCCGGCCGCGGCGTCCCGACCTTCGCCGTCGTCGCCGCTGCCGCCGGCCCGCGGGCGGGATGGGGAGGAACGGGGACTG
TCCCCGGCGCTCGGCCTCCGGGGCTCTCTGCGAGCCCGGGGCCGCGGGGACTCCGTTCCAGCCGCCGCGTCCGAGGCGGACCCGTTCCTCCACCGGCTGCGCCCC
ATGCTCAGCTCCGCCTTTGGCCAGGATAGATCACTGCGACCAGAGGAAATTGAAGAGCTCCGAGAGGCCTTCAGAGAATTCGACAAGGACAAGGATGGCTACATC
AACTGCCGGGATCTGGGCAACTGCATGCGCACCATGGGCTACATGCCCACCGAGATGGAGCTCATCGAACTGTCCCAGCAGATCAACATGAACCTGGGTGGCCAT
GTAGATTTTGATGACTTCGTGGAGCTAATGGGGCCTAAACTCCTGGCAGAGACAGCAGATATGATTGGTGTAAAGGAACTGCGAGATGCTTTCCGAGAGTTTGAC
ACCAATGGTGATGGGGAAATAAGCACCAGTGAGCTGCGAGAGGCTATGAGGAAGCTCCTGGGTCATCAGGTGGGACACCGAGACATAGAGGAAATTATCCGAGAT
GTGGACCTCAATGGGGATGGACGAGTGGACTTTGAAGAGTTTGTCCGGATGATGTCCCGCTGA
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>CABP1|9478|protein
MGGGDGAAFKRPGDGARLQRVLGLGSRREPRSLPAGGPAPRRTAPPPPGHASAGPAAMSSHIAKSESKTSLLKAAAAAASGGSRAPRHGPARDPGLPSRRLPGSC
PATPQSSGDPSSRRPLCRPAPREEGARGSQRVLPQAHCRPREALPAAASRPSPSSPLPPARGRDGEERGLSPALGLRGSLRARGRGDSVPAAASEADPFLHRLRP
MLSSAFGQDRSLRPEEIEELREAFREFDKDKDGYINCRDLGNCMRTMGYMPTEMELIELSQQINMNLGGHVDFDDFVELMGPKLLAETADMIGVKELRDAFREFD
TNGDGEISTSELREAMRKLLGHQVGHRDIEEIIRDVDLNGDGRVDFEEFVRMMSR
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MGGGDGAAFKRPGDGARLQRVLGLGSRREPRSLPAGGPAPRRTAPPPPGHASAGPAAMSSHIAKSESKTSLLKAAAAAASGGSRAPRHGPARDPGLPSRRLPGSC
PATPQSSGDPSSRRPLCRPAPREEGARGSQRVLPQAHCRPREALPAAASRPSPSSPLPPARGRDGEERGLSPALGLRGSLRARGRGDSVPAAASEADPFLHRLRP
MLSSAFGQDRSLRPEEIEELREAFREFDKDKDGYINCRDLGNCMRTMGYMPTEMELIELSQQINMNLGGHVDFDDFVELMGPKLLAETADMIGVKELRDAFREFD
TNGDGEISTSELREAMRKLLGHQVGHRDIEEIIRDVDLNGDGRVDFEEFVRMMSR
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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 (3) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (4) |
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 | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top