Evidence Details for PITPNA
Basic Information Top
| Gene Symbol: | PITPNA ( MGC99649,PI-TPalpha,PITPN,VIB1A ) |
|---|---|
| Gene Full Name: | phosphatidylinositol transfer protein, alpha |
| Band: | 17p13.3 |
| Quick Links | Entrez ID:5306; OMIM: 600174; Uniprot ID:PIPNA_HUMAN; ENSEMBL ID: ENSG00000174238; HGNC ID: 9001 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PITPNA|5306|nucleotide
ATGGTGCTGCTCAAGGAGTATCGAGTAATCCTGCCTGTGTCTGTAGATGAGTATCAAGTGGGGCAGCTGTATTCTGTGGCTGAGGCCAGTAAAAATGAAACGGGT
GGTGGCGAAGGCGTGGAGGTCCTGGTGAATGAGCCCTACGAGAAGGACGGTGAGAAAGGCCAGTACACACACAAGATCTACCACCTGCAGAGCAAAGTACCCACG
TTTGTTCGAATGCTGGCCCCAGAGGGAGCCCTGAATATACACGAGAAAGCCTGGAATGCTTACCCCTACTGCAGAACCGTTATTACAAATGAGTACATGAAAGAA
GACTTTCTGATTAAAATTGAAACCTGGCACAAACCAGATCTTGGCACGCAGGAGAATGTGCATAAGCTGGAGCCTGAGGCGTGGAAACACGTGGAAGCCGTATAT
ATAGACATTGCAGATCGAAGCCAAGTGCTCAGCAAGGATTACAAGGCAGAGGAAGACCCAGCAAAATTTAAATCTATCAAAACAGGCCGAGGACCCTTGGGCCCC
AATTGGAAGCAAGAGCTTGTAAACCAGAAGGACTGCCCATATATGTGTGCATACAAACTGGTGACCGTCAAGTTCAAGTGGTGGGGCCTGCAGAACAAAGTGGAG
AACTTCATCCATAAGCAAGAGAGGCGTCTGTTTACAAACTTCCACAGGCAGCTGTTCTGTTGGCTCGATAAGTGGGTTGACCTGACCATGGACGACATTCGAAGG
ATGGAAGAAGAGACGAAGAGACAGCTGGATGAAATGAGACAAAAGGACCCAGTGAAAGGAATGACAGCAGATGACTAA
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ATGGTGCTGCTCAAGGAGTATCGAGTAATCCTGCCTGTGTCTGTAGATGAGTATCAAGTGGGGCAGCTGTATTCTGTGGCTGAGGCCAGTAAAAATGAAACGGGT
GGTGGCGAAGGCGTGGAGGTCCTGGTGAATGAGCCCTACGAGAAGGACGGTGAGAAAGGCCAGTACACACACAAGATCTACCACCTGCAGAGCAAAGTACCCACG
TTTGTTCGAATGCTGGCCCCAGAGGGAGCCCTGAATATACACGAGAAAGCCTGGAATGCTTACCCCTACTGCAGAACCGTTATTACAAATGAGTACATGAAAGAA
GACTTTCTGATTAAAATTGAAACCTGGCACAAACCAGATCTTGGCACGCAGGAGAATGTGCATAAGCTGGAGCCTGAGGCGTGGAAACACGTGGAAGCCGTATAT
ATAGACATTGCAGATCGAAGCCAAGTGCTCAGCAAGGATTACAAGGCAGAGGAAGACCCAGCAAAATTTAAATCTATCAAAACAGGCCGAGGACCCTTGGGCCCC
AATTGGAAGCAAGAGCTTGTAAACCAGAAGGACTGCCCATATATGTGTGCATACAAACTGGTGACCGTCAAGTTCAAGTGGTGGGGCCTGCAGAACAAAGTGGAG
AACTTCATCCATAAGCAAGAGAGGCGTCTGTTTACAAACTTCCACAGGCAGCTGTTCTGTTGGCTCGATAAGTGGGTTGACCTGACCATGGACGACATTCGAAGG
ATGGAAGAAGAGACGAAGAGACAGCTGGATGAAATGAGACAAAAGGACCCAGTGAAAGGAATGACAGCAGATGACTAA
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>PITPNA|5306|protein
MVLLKEYRVILPVSVDEYQVGQLYSVAEASKNETGGGEGVEVLVNEPYEKDGEKGQYTHKIYHLQSKVPTFVRMLAPEGALNIHEKAWNAYPYCRTVITNEYMKE
DFLIKIETWHKPDLGTQENVHKLEPEAWKHVEAVYIDIADRSQVLSKDYKAEEDPAKFKSIKTGRGPLGPNWKQELVNQKDCPYMCAYKLVTVKFKWWGLQNKVE
NFIHKQERRLFTNFHRQLFCWLDKWVDLTMDDIRRMEEETKRQLDEMRQKDPVKGMTADD
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MVLLKEYRVILPVSVDEYQVGQLYSVAEASKNETGGGEGVEVLVNEPYEKDGEKGQYTHKIYHLQSKVPTFVRMLAPEGALNIHEKAWNAYPYCRTVITNEYMKE
DFLIKIETWHKPDLGTQENVHKLEPEAWKHVEAVYIDIADRSQVLSKDYKAEEDPAKFKSIKTGRGPLGPNWKQELVNQKDCPYMCAYKLVTVKFKWWGLQNKVE
NFIHKQERRLFTNFHRQLFCWLDKWVDLTMDDIRRMEEETKRQLDEMRQKDPVKGMTADD
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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) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
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 | ||||||
| Zwaag, 2009 | - | SNP microarray |  | | autism | - | - | - | - | 105 | 267 | 372 |
| Bremer, 2011 | - | aCGH |  | | ASD | - | - | - | - | 223 | - | 223 |
Linkage Studies Top