Evidence Details for PIBF1
Basic Information Top
| Gene Symbol: | PIBF1 ( C13orf24,KIAA1008,PIBF,RP11-505F3.1 ) |
|---|---|
| Gene Full Name: | progesterone immunomodulatory binding factor 1 |
| Band: | 13q21.33-q22.1 |
| Quick Links | Entrez ID:10464; OMIM: 607532; Uniprot ID:PIBF1_HUMAN; ENSEMBL ID: ENSG00000083535; HGNC ID: 23352 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PIBF1|10464|nucleotide
ATGTCTCGAAAAATTTCAAAGGAGTCAAAAAAAGTGAACATCTCTAGTTCTCTGGAATCTGAAGATATTAGTTTAGAAACAACAGTTCCTACGGATGATATTTCC
TCATCAGAAGAGCGAGAGGGCAAAGTCAGAATCACCAGGCAGCTAATTGAACGAAAAGAACTACTTCATAATATTCAGTTACTAAAAATTGAGCTATCCCAGAAA
ACTATGATGATCGACAATTTGAAAGTGGATTATCTTACAAAGATTGAAGAATTGGAGGAGAAACTTAATGATGCACTTCACCAGAAGCAGCTACTAACATTGAGA
TTAGACAACCAATTGGCTTTTCAACAGAAAGATGCCAGCAAATATCAAGAATTAATGAAACAAGAAATGGAAACCATTTTGTTGAGACAGAAACAACTAGAAGAG
ACAAATCTTCAGCTAAGAGAAAAAGCTGGAGATGTTCGTCGAAACCTGCGTGACTTTGAGTTGACAGAAGAGCAATATATTAAATTAAAAGCTTTTCCTGAAGAT
CAGCTTTCTATTCCTGAATATGTATCTGTTCGCTTCTATGAGCTAGTGAATCCATTAAGAAAGGAAATCTGTGAACTACAAGTGAAAAAGAATATCCTAGCAGAA
GAATTAAGTACAAACAAAAACCAACTGAAGCAGCTGACAGAGACATATGAGGAAGATCGAAAAAACTACTCTGAAGTTCAAATTAGATGTCAACGTTTGGCCTTA
GAATTAGCAGACACAAAACAGTTAATTCAGCAAGGTGACTACCGTCAAGAGAACTATGATAAAGTCAAGAGTGAACGTGATGCACTTGAACAGGAAGTAATTGAG
CTTAGGAGAAAACATGAAATACTTGAAGCCTCTCACATGATTCAAACAAAAGAACGAAGTGAATTATCAAAAGAGGTAGTCACCTTAGAGCAAACTGTTACTTTA
CTGCAAAAGGATAAAGAATATCTTAATCGCCAAAACATGGAGCTTAGTGTTCGCTGTGCTCATGAAGAGGATCGCCTTGAAAGACTTCAAGCTCAACTGGAAGAA
AGCAAAAAGGCTAGAGAAGAGATGTATGAAAAATATGTAGCATCCAGAGACCATTATAAAACAGAATATGAAAATAAACTACATGATGAACTAGAACAAATCAGA
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ATGTCTCGAAAAATTTCAAAGGAGTCAAAAAAAGTGAACATCTCTAGTTCTCTGGAATCTGAAGATATTAGTTTAGAAACAACAGTTCCTACGGATGATATTTCC
TCATCAGAAGAGCGAGAGGGCAAAGTCAGAATCACCAGGCAGCTAATTGAACGAAAAGAACTACTTCATAATATTCAGTTACTAAAAATTGAGCTATCCCAGAAA
ACTATGATGATCGACAATTTGAAAGTGGATTATCTTACAAAGATTGAAGAATTGGAGGAGAAACTTAATGATGCACTTCACCAGAAGCAGCTACTAACATTGAGA
TTAGACAACCAATTGGCTTTTCAACAGAAAGATGCCAGCAAATATCAAGAATTAATGAAACAAGAAATGGAAACCATTTTGTTGAGACAGAAACAACTAGAAGAG
ACAAATCTTCAGCTAAGAGAAAAAGCTGGAGATGTTCGTCGAAACCTGCGTGACTTTGAGTTGACAGAAGAGCAATATATTAAATTAAAAGCTTTTCCTGAAGAT
CAGCTTTCTATTCCTGAATATGTATCTGTTCGCTTCTATGAGCTAGTGAATCCATTAAGAAAGGAAATCTGTGAACTACAAGTGAAAAAGAATATCCTAGCAGAA
GAATTAAGTACAAACAAAAACCAACTGAAGCAGCTGACAGAGACATATGAGGAAGATCGAAAAAACTACTCTGAAGTTCAAATTAGATGTCAACGTTTGGCCTTA
GAATTAGCAGACACAAAACAGTTAATTCAGCAAGGTGACTACCGTCAAGAGAACTATGATAAAGTCAAGAGTGAACGTGATGCACTTGAACAGGAAGTAATTGAG
CTTAGGAGAAAACATGAAATACTTGAAGCCTCTCACATGATTCAAACAAAAGAACGAAGTGAATTATCAAAAGAGGTAGTCACCTTAGAGCAAACTGTTACTTTA
CTGCAAAAGGATAAAGAATATCTTAATCGCCAAAACATGGAGCTTAGTGTTCGCTGTGCTCATGAAGAGGATCGCCTTGAAAGACTTCAAGCTCAACTGGAAGAA
AGCAAAAAGGCTAGAGAAGAGATGTATGAAAAATATGTAGCATCCAGAGACCATTATAAAACAGAATATGAAAATAAACTACATGATGAACTAGAACAAATCAGA
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>PIBF1|10464|protein
MSRKISKESKKVNISSSLESEDISLETTVPTDDISSSEEREGKVRITRQLIERKELLHNIQLLKIELSQKTMMIDNLKVDYLTKIEELEEKLNDALHQKQLLTLR
LDNQLAFQQKDASKYQELMKQEMETILLRQKQLEETNLQLREKAGDVRRNLRDFELTEEQYIKLKAFPEDQLSIPEYVSVRFYELVNPLRKEICELQVKKNILAE
ELSTNKNQLKQLTETYEEDRKNYSEVQIRCQRLALELADTKQLIQQGDYRQENYDKVKSERDALEQEVIELRRKHEILEASHMIQTKERSELSKEVVTLEQTVTL
LQKDKEYLNRQNMELSVRCAHEEDRLERLQAQLEESKKAREEMYEKYVASRDHYKTEYENKLHDELEQIRLKTNQEIDQLRNASREMYERENRNLREARDNAVAE
KERAVMAEKDALEKHDQLLDRYRELQLSTESKVTEFLHQSKLKSFESERVQLLQEETARNLTQCQLECEKYQKKLEVLTKEFYSLQASSEKRITELQAQNSEHQA
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MSRKISKESKKVNISSSLESEDISLETTVPTDDISSSEEREGKVRITRQLIERKELLHNIQLLKIELSQKTMMIDNLKVDYLTKIEELEEKLNDALHQKQLLTLR
LDNQLAFQQKDASKYQELMKQEMETILLRQKQLEETNLQLREKAGDVRRNLRDFELTEEQYIKLKAFPEDQLSIPEYVSVRFYELVNPLRKEICELQVKKNILAE
ELSTNKNQLKQLTETYEEDRKNYSEVQIRCQRLALELADTKQLIQQGDYRQENYDKVKSERDALEQEVIELRRKHEILEASHMIQTKERSELSKEVVTLEQTVTL
LQKDKEYLNRQNMELSVRCAHEEDRLERLQAQLEESKKAREEMYEKYVASRDHYKTEYENKLHDELEQIRLKTNQEIDQLRNASREMYERENRNLREARDNAVAE
KERAVMAEKDALEKHDQLLDRYRELQLSTESKVTEFLHQSKLKSFESERVQLLQEETARNLTQCQLECEKYQKKLEVLTKEFYSLQASSEKRITELQAQNSEHQA
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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) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (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 | ||||||
| Steele, 2001 | - | Chromosomal analysis of G-band |  | | autism | - | - | - | - | 1 | - | 1 |
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top