Evidence Details for PINX1
Basic Information Top
| Gene Symbol: | PINX1 ( FLJ20565,LPTL,LPTS,MGC8850 ) |
|---|---|
| Gene Full Name: | PIN2/TERF1 interacting, telomerase inhibitor 1 |
| Band: | 8p23 |
| Quick Links | Entrez ID:54984; OMIM: 606505; Uniprot ID:PINX1_HUMAN; ENSEMBL ID: ENSG00000171056; HGNC ID: 30046 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PINX1|54984|nucleotide
ATGTCTATGCTGGCTGAACGTCGGCGGAAGCAGAAGTGGGCTGTGGATCCTCAGAACACTGCCTGGAGTAATGACGATTCCAAGTTTGGCCAGCGGATGCTAGAG
AAGATGGGGTGGTCTAAAGGAAAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACC
ATCAATAATGAAGACAACTGGATTGCCCATCAGGATGATTTTAACCAGCTTCTGGCCGAACTGAACACTTGCCATGGGCAGGAAACCACAGATTCCTCGGACAAG
AAGGAAAAGAAATCTTTTAGCCTTGAGGAAAAGTCCAAAATCTCCAAAAACCGTGTTCACTATATGAAATTCACAAAAGGGAAGGATCTGTCATCTCGGAGCAAA
ACAGATCTTGACTGCATTTTTGGGAAAAGACAGAGTAAGAAGACTCCCGAGGGCGATGCCAGTCCCTCCACTCCAGAGGAGAACGAAACCACGACAACCAGCGCC
TTCACCATCCAGGAGTACTTTGCCAAGCGGATGGCAGCACTGAAGAACAAGCCCCAGGTTCCAGTTCCAGGGTCTGACATTTCTGAGACGCAGGTGGAACGTAAA
AGGGGGAAGAAAAGAAATAAAGAGGCCACAGGTAAAGATGTGGAAAGTTACCTCCAGCCTAAGGCCAAGAGGCACACGGAGGGAAAGCCCGAGAGGGCCGAGGCC
CAGGAGCGAGTGGCCAAGAAGAAGAGCGCGCCAGCAGAAGAGCAGCTCAGAGGCCCCTGCTGGGACCAGAGTTCCAAGGCCTCTGCTCAGGATGCAGGGGACCAT
GTGCAGCCGCCTGAGGGCCGGGACTTCACCCTGAAGCCCAAAAAGAGGAGAGGGAAGAAAAAGCTGCAAAAACCAGTAGAGATAGCAGAGGACGCTACACTAGAA
GAAACGCTAGTGAAAAAGAAGAAGAAGAAAGATTCCAAATGA
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ATGTCTATGCTGGCTGAACGTCGGCGGAAGCAGAAGTGGGCTGTGGATCCTCAGAACACTGCCTGGAGTAATGACGATTCCAAGTTTGGCCAGCGGATGCTAGAG
AAGATGGGGTGGTCTAAAGGAAAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACC
ATCAATAATGAAGACAACTGGATTGCCCATCAGGATGATTTTAACCAGCTTCTGGCCGAACTGAACACTTGCCATGGGCAGGAAACCACAGATTCCTCGGACAAG
AAGGAAAAGAAATCTTTTAGCCTTGAGGAAAAGTCCAAAATCTCCAAAAACCGTGTTCACTATATGAAATTCACAAAAGGGAAGGATCTGTCATCTCGGAGCAAA
ACAGATCTTGACTGCATTTTTGGGAAAAGACAGAGTAAGAAGACTCCCGAGGGCGATGCCAGTCCCTCCACTCCAGAGGAGAACGAAACCACGACAACCAGCGCC
TTCACCATCCAGGAGTACTTTGCCAAGCGGATGGCAGCACTGAAGAACAAGCCCCAGGTTCCAGTTCCAGGGTCTGACATTTCTGAGACGCAGGTGGAACGTAAA
AGGGGGAAGAAAAGAAATAAAGAGGCCACAGGTAAAGATGTGGAAAGTTACCTCCAGCCTAAGGCCAAGAGGCACACGGAGGGAAAGCCCGAGAGGGCCGAGGCC
CAGGAGCGAGTGGCCAAGAAGAAGAGCGCGCCAGCAGAAGAGCAGCTCAGAGGCCCCTGCTGGGACCAGAGTTCCAAGGCCTCTGCTCAGGATGCAGGGGACCAT
GTGCAGCCGCCTGAGGGCCGGGACTTCACCCTGAAGCCCAAAAAGAGGAGAGGGAAGAAAAAGCTGCAAAAACCAGTAGAGATAGCAGAGGACGCTACACTAGAA
GAAACGCTAGTGAAAAAGAAGAAGAAGAAAGATTCCAAATGA
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>PINX1|54984|protein
MSMLAERRRKQKWAVDPQNTAWSNDDSKFGQRMLEKMGWSKGKGLGAQEQGATDHIKVQVKNNHLGLGATINNEDNWIAHQDDFNQLLAELNTCHGQETTDSSDK
KEKKSFSLEEKSKISKNRVHYMKFTKGKDLSSRSKTDLDCIFGKRQSKKTPEGDASPSTPEENETTTTSAFTIQEYFAKRMAALKNKPQVPVPGSDISETQVERK
RGKKRNKEATGKDVESYLQPKAKRHTEGKPERAEAQERVAKKKSAPAEEQLRGPCWDQSSKASAQDAGDHVQPPEGRDFTLKPKKRRGKKKLQKPVEIAEDATLE
ETLVKKKKKKDSK
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MSMLAERRRKQKWAVDPQNTAWSNDDSKFGQRMLEKMGWSKGKGLGAQEQGATDHIKVQVKNNHLGLGATINNEDNWIAHQDDFNQLLAELNTCHGQETTDSSDK
KEKKSFSLEEKSKISKNRVHYMKFTKGKDLSSRSKTDLDCIFGKRQSKKTPEGDASPSTPEENETTTTSAFTIQEYFAKRMAALKNKPQVPVPGSDISETQVERK
RGKKRNKEATGKDVESYLQPKAKRHTEGKPERAEAQERVAKKKSAPAEEQLRGPCWDQSSKASAQDAGDHVQPPEGRDFTLKPKKRRGKKKLQKPVEIAEDATLE
ETLVKKKKKKDSK
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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 (4) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (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 | ||||||
| Wassink, 2001 | USA | Chromosomal analysis of G-band |  | | autism | - | - | - | - | 278 | - | 278 |
| Papanikolaou, 2006 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies Top