Evidence Details for BAIAP2
Basic Information Top
| Gene Symbol: | BAIAP2 ( BAP2,FLAF3,IRSP53 ) |
|---|---|
| Gene Full Name: | BAI1-associated protein 2 |
| Band: | 17q25.3 |
| Quick Links | Entrez ID:10458; OMIM: 605475; Uniprot ID:BAIP2_HUMAN; ENSEMBL ID: ENSG00000175866; HGNC ID: 947 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>BAIAP2|10458|nucleotide
ATGTCTCTGTCTCGCTCAGAGGAGATGCACCGGCTCACGGAAAATGTCTATAAGACCATCATGGAGCAGTTCAACCCTAGCCTCCGGAACTTCATCGCCATGGGG
AAGAATTACGAGAAGGCACTGGCAGGTGTGACGTATGCAGCCAAAGGCTACTTTGACGCCCTGGTGAAGATGGGGGAGCTGGCCAGCGAGAGCCAGGGCTCCAAA
GAACTCGGAGACGTTCTCTTCCAGATGGCTGAAGTCCACAGGCAGATCCAGAATCAGCTGGAAGAAATGCTGAAGTCTTTTCACAACGAGCTGCTTACGCAGCTG
GAGCAGAAGGTGGAGCTGGACTCCAGGTATCTGAGTGCTGCGCTGAAGAAATACCAGACTGAGCAAAGGAGCAAAGGCGACGCCCTGGACAAGTGTCAGGCTGAG
CTGAAGAAGCTTCGGAAGAAGAGCCAGGGCAGCAAGAATCCTCAGAAGTACTCGGACAAGGAGCTGCAGTACATCGACGCCATCAGCAACAAGCAGGGCGAGCTG
GAGAATTACGTGTCCGACGGCTACAAGACCGCACTGACAGAGGAGCGCAGGCGCTTCTGCTTCCTGGTGGAGAAGCAGTGCGCCGTGGCCAAGAACTCCGCGGCC
TACCACTCCAAGGGCAAGGAGCTGCTGGCGCAGAAGCTGCCGCTGTGGCAACAGGCCTGTGCCGACCCCAGCAAGATCCCGGAGCGCGCGGTGCAGCTCATGCAG
CAGGTGGCCAGCAACGGCGCCACCCTCCCCAGCGCCCTGTCGGCCTCCAAGTCCAACCTGGTCATTTCCGACCCCATTCCGGGGGCCAAGCCCCTGCCGGTGCCC
CCCGAGCTGGCACCGTTCGTGGGGCGGATGTCTGCCCAGGAGAGCACACCCATCATGAACGGCGTCACAGGCCCGGATGGCGAGGACTACAGCCCGTGGGCTGAC
CGCAAGGCTGCCCAGCCCAAATCCCTGTCTCCTCCGCAGTCTCAGAGCAAGCTCAGCGACTCCTACTCCAACACACTCCCCGTGCGCAAGAGCGTGACCCCAAAA
AACAGCTATGCCACCACCGAGAACAAGACTCTGCCTCGCTCGAGCTCCATGGCAGCCGGCCTGGAGCGCAATGGCCGTATGCGGGTGAAGGCCATCTTCTCCCAC
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ATGTCTCTGTCTCGCTCAGAGGAGATGCACCGGCTCACGGAAAATGTCTATAAGACCATCATGGAGCAGTTCAACCCTAGCCTCCGGAACTTCATCGCCATGGGG
AAGAATTACGAGAAGGCACTGGCAGGTGTGACGTATGCAGCCAAAGGCTACTTTGACGCCCTGGTGAAGATGGGGGAGCTGGCCAGCGAGAGCCAGGGCTCCAAA
GAACTCGGAGACGTTCTCTTCCAGATGGCTGAAGTCCACAGGCAGATCCAGAATCAGCTGGAAGAAATGCTGAAGTCTTTTCACAACGAGCTGCTTACGCAGCTG
GAGCAGAAGGTGGAGCTGGACTCCAGGTATCTGAGTGCTGCGCTGAAGAAATACCAGACTGAGCAAAGGAGCAAAGGCGACGCCCTGGACAAGTGTCAGGCTGAG
CTGAAGAAGCTTCGGAAGAAGAGCCAGGGCAGCAAGAATCCTCAGAAGTACTCGGACAAGGAGCTGCAGTACATCGACGCCATCAGCAACAAGCAGGGCGAGCTG
GAGAATTACGTGTCCGACGGCTACAAGACCGCACTGACAGAGGAGCGCAGGCGCTTCTGCTTCCTGGTGGAGAAGCAGTGCGCCGTGGCCAAGAACTCCGCGGCC
TACCACTCCAAGGGCAAGGAGCTGCTGGCGCAGAAGCTGCCGCTGTGGCAACAGGCCTGTGCCGACCCCAGCAAGATCCCGGAGCGCGCGGTGCAGCTCATGCAG
CAGGTGGCCAGCAACGGCGCCACCCTCCCCAGCGCCCTGTCGGCCTCCAAGTCCAACCTGGTCATTTCCGACCCCATTCCGGGGGCCAAGCCCCTGCCGGTGCCC
CCCGAGCTGGCACCGTTCGTGGGGCGGATGTCTGCCCAGGAGAGCACACCCATCATGAACGGCGTCACAGGCCCGGATGGCGAGGACTACAGCCCGTGGGCTGAC
CGCAAGGCTGCCCAGCCCAAATCCCTGTCTCCTCCGCAGTCTCAGAGCAAGCTCAGCGACTCCTACTCCAACACACTCCCCGTGCGCAAGAGCGTGACCCCAAAA
AACAGCTATGCCACCACCGAGAACAAGACTCTGCCTCGCTCGAGCTCCATGGCAGCCGGCCTGGAGCGCAATGGCCGTATGCGGGTGAAGGCCATCTTCTCCCAC
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>BAIAP2|10458|protein
MSLSRSEEMHRLTENVYKTIMEQFNPSLRNFIAMGKNYEKALAGVTYAAKGYFDALVKMGELASESQGSKELGDVLFQMAEVHRQIQNQLEEMLKSFHNELLTQL
EQKVELDSRYLSAALKKYQTEQRSKGDALDKCQAELKKLRKKSQGSKNPQKYSDKELQYIDAISNKQGELENYVSDGYKTALTEERRRFCFLVEKQCAVAKNSAA
YHSKGKELLAQKLPLWQQACADPSKIPERAVQLMQQVASNGATLPSALSASKSNLVISDPIPGAKPLPVPPELAPFVGRMSAQESTPIMNGVTGPDGEDYSPWAD
RKAAQPKSLSPPQSQSKLSDSYSNTLPVRKSVTPKNSYATTENKTLPRSSSMAAGLERNGRMRVKAIFSHAAGDNSTLLSFKEGDLITLLVPEARDGWHYGESEK
TKMRGWFPFSYTRVLDSDGSDRLHMSLQQGKSSSTGNLLDKDDLAIPPPDYGAASRAFPAQTASGFKQRPYSVAVPAFSQGLDDYGARSMSRNPFAHVQLKPTVT
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MSLSRSEEMHRLTENVYKTIMEQFNPSLRNFIAMGKNYEKALAGVTYAAKGYFDALVKMGELASESQGSKELGDVLFQMAEVHRQIQNQLEEMLKSFHNELLTQL
EQKVELDSRYLSAALKKYQTEQRSKGDALDKCQAELKKLRKKSQGSKNPQKYSDKELQYIDAISNKQGELENYVSDGYKTALTEERRRFCFLVEKQCAVAKNSAA
YHSKGKELLAQKLPLWQQACADPSKIPERAVQLMQQVASNGATLPSALSASKSNLVISDPIPGAKPLPVPPELAPFVGRMSAQESTPIMNGVTGPDGEDYSPWAD
RKAAQPKSLSPPQSQSKLSDSYSNTLPVRKSVTPKNSYATTENKTLPRSSSMAAGLERNGRMRVKAIFSHAAGDNSTLLSFKEGDLITLLVPEARDGWHYGESEK
TKMRGWFPFSYTRVLDSDGSDRLHMSLQQGKSSSTGNLLDKDDLAIPPPDYGAASRAFPAQTASGFKQRPYSVAVPAFSQGLDDYGARSMSRNPFAHVQLKPTVT
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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 (1) | 1 (1) | 1 (1) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 5 (5) |
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 | ||||||
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Auranen, 2002 | Finland | microsatellite-based genomic screen |  | | autism | 19 | - | 19 | - | 54 | - | - |
Low Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 0
| Reference | Source | Platform | #Families | Affecteds | Result | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||||
| No Evidence. | |||||||||||||
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) |
|||||
| CAUCASIAN | |||||||||||
| Vilella, 2010_1 | Spain | - |  | | autism | - - |
- | 490 (-) |
- - | ||
Large Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
0.908973 | Down | 11.6801 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
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 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.