Evidence Details for PYHIN1
Basic Information Top
| Gene Symbol: | PYHIN1 ( IFIX,MGC23885,RP11-520H16.1 ) |
|---|---|
| Gene Full Name: | pyrin and HIN domain family, member 1 |
| Band: | 1q23.1 |
| Quick Links | Entrez ID:149628; OMIM: 612677; Uniprot ID:IFIX_HUMAN; ENSEMBL ID: ENSG00000163564; HGNC ID: 28894 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PYHIN1|149628|nucleotide
ATGGCAAATAACTACAAGAAAATTGTTCTACTGAAAGGATTAGAGGTCATCAATGATTATCATTTTAGAATTGTTAAGTCCTTACTGAGTAACGATTTAAAACTT
AATCCAAAAATGAAAGAAGAGTATGACAAAATTCAGATTGCTGACTTGATGGAGGAAAAGTTCCCAGGTGATGCCGGTTTGGGCAAACTAATAGAATTCTTCAAA
GAAATACCAACACTGGGAGACCTTGCTGAAACTCTTAAAAGAGAAAAGTTAAAAGTTGCAAATAAAATTGAATCCATTCCAGTCAAAGGAATAATCCCATCTAAA
AAGACGAAACAGAAAGAAGTGTATCCTGCTACACCTGCATGCACCCCAAGCAACCGTCTCACAGCTAAAGGAGCAGAGGAGACTCTTGGACCTCAGAAAAGAAAA
AAACCATCTGAAGAAGAGACTGGAACCAAAAGGAGTAAGATGTCCAAAGAGCAGACTCGGCCTTCCTGCTCTGCAGGAGCCAGCACGTCCACAGCCATGGGCCGT
TCCCCACCTCCCCAGACCTCATCATCAGCTCCACCCAACACTTCCTCAACTGAGAGCCTAAAACCATTGGCCAACCGTCACGCAACTGCCAGTAAAAATATTTTC
CGAGAAGACCCAATAATCGCGATGGTACTAAATGCAACAAAAGTATTTAAATATGAATCCTCAGAAAATGAGCAAAGAAGAATGTTTCATGCTACAGTGGCTACG
CAGACACAGTTCTTTCATGTGAAGGTTTTAAACATCAACTTGAAGAGGAAATTCATTAAAAAGAGAATCATCATTATATCAAATTATTCCAAACGTAATAGTCTC
CTAGAGGTGAATGAAGCCTCTTCTGTATCTGAAGCTGGTCCTGACCAAACGTTTGAGGTTCCAAAGGACATCATCAGAAGAGCAAAGAAAATTCCGAAGATCAAT
ATTCTTCACAAACAAACTTCAGGATATATTGTATATGGATTATTTATGCTACATACGAAAATTGTAAATAGGAAGACGACAATCTATGAAATTCAGGATAAAACA
GGAAGTATGGCTGTAGTAGGAAAAGGAGAATGCCACAATATCCCCTGTGAAAAAGGAGATAAGCTTCGACTCTTCTGCTTTCGACTGAGAAAGAGGGAAAATATG
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ATGGCAAATAACTACAAGAAAATTGTTCTACTGAAAGGATTAGAGGTCATCAATGATTATCATTTTAGAATTGTTAAGTCCTTACTGAGTAACGATTTAAAACTT
AATCCAAAAATGAAAGAAGAGTATGACAAAATTCAGATTGCTGACTTGATGGAGGAAAAGTTCCCAGGTGATGCCGGTTTGGGCAAACTAATAGAATTCTTCAAA
GAAATACCAACACTGGGAGACCTTGCTGAAACTCTTAAAAGAGAAAAGTTAAAAGTTGCAAATAAAATTGAATCCATTCCAGTCAAAGGAATAATCCCATCTAAA
AAGACGAAACAGAAAGAAGTGTATCCTGCTACACCTGCATGCACCCCAAGCAACCGTCTCACAGCTAAAGGAGCAGAGGAGACTCTTGGACCTCAGAAAAGAAAA
AAACCATCTGAAGAAGAGACTGGAACCAAAAGGAGTAAGATGTCCAAAGAGCAGACTCGGCCTTCCTGCTCTGCAGGAGCCAGCACGTCCACAGCCATGGGCCGT
TCCCCACCTCCCCAGACCTCATCATCAGCTCCACCCAACACTTCCTCAACTGAGAGCCTAAAACCATTGGCCAACCGTCACGCAACTGCCAGTAAAAATATTTTC
CGAGAAGACCCAATAATCGCGATGGTACTAAATGCAACAAAAGTATTTAAATATGAATCCTCAGAAAATGAGCAAAGAAGAATGTTTCATGCTACAGTGGCTACG
CAGACACAGTTCTTTCATGTGAAGGTTTTAAACATCAACTTGAAGAGGAAATTCATTAAAAAGAGAATCATCATTATATCAAATTATTCCAAACGTAATAGTCTC
CTAGAGGTGAATGAAGCCTCTTCTGTATCTGAAGCTGGTCCTGACCAAACGTTTGAGGTTCCAAAGGACATCATCAGAAGAGCAAAGAAAATTCCGAAGATCAAT
ATTCTTCACAAACAAACTTCAGGATATATTGTATATGGATTATTTATGCTACATACGAAAATTGTAAATAGGAAGACGACAATCTATGAAATTCAGGATAAAACA
GGAAGTATGGCTGTAGTAGGAAAAGGAGAATGCCACAATATCCCCTGTGAAAAAGGAGATAAGCTTCGACTCTTCTGCTTTCGACTGAGAAAGAGGGAAAATATG
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>PYHIN1|149628|protein
MANNYKKIVLLKGLEVINDYHFRIVKSLLSNDLKLNPKMKEEYDKIQIADLMEEKFPGDAGLGKLIEFFKEIPTLGDLAETLKREKLKVANKIESIPVKGIIPSK
KTKQKEVYPATPACTPSNRLTAKGAEETLGPQKRKKPSEEETGTKRSKMSKEQTRPSCSAGASTSTAMGRSPPPQTSSSAPPNTSSTESLKPLANRHATASKNIF
REDPIIAMVLNATKVFKYESSENEQRRMFHATVATQTQFFHVKVLNINLKRKFIKKRIIIISNYSKRNSLLEVNEASSVSEAGPDQTFEVPKDIIRRAKKIPKIN
ILHKQTSGYIVYGLFMLHTKIVNRKTTIYEIQDKTGSMAVVGKGECHNIPCEKGDKLRLFCFRLRKRENMSKLMSEMHSFIQIQKNTNQRSHDSRSMALPQEQSQ
HPKPSEASTTLPESHLKTPQMPPTTPSSSSFTKKDETHPGAQSSPANFRITSPTVAPPLSSDTSTNRHPAVP
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MANNYKKIVLLKGLEVINDYHFRIVKSLLSNDLKLNPKMKEEYDKIQIADLMEEKFPGDAGLGKLIEFFKEIPTLGDLAETLKREKLKVANKIESIPVKGIIPSK
KTKQKEVYPATPACTPSNRLTAKGAEETLGPQKRKKPSEEETGTKRSKMSKEQTRPSCSAGASTSTAMGRSPPPQTSSSAPPNTSSTESLKPLANRHATASKNIF
REDPIIAMVLNATKVFKYESSENEQRRMFHATVATQTQFFHVKVLNINLKRKFIKKRIIIISNYSKRNSLLEVNEASSVSEAGPDQTFEVPKDIIRRAKKIPKIN
ILHKQTSGYIVYGLFMLHTKIVNRKTTIYEIQDKTGSMAVVGKGECHNIPCEKGDKLRLFCFRLRKRENMSKLMSEMHSFIQIQKNTNQRSHDSRSMALPQEQSQ
HPKPSEASTTLPESHLKTPQMPPTTPSSSSFTKKDETHPGAQSSPANFRITSPTVAPPLSSDTSTNRHPAVP
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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 (0) | 0 (0) | 0 (0) | 2 (2) | 0 (3) | 0 (1) | 0 (0) | 0 (0) | 2 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 2
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gregg, 2008_1 | mixed | lymphoblastoid cell lines | 35 (14.29%) |  | | autism | autism | 12 (25.00%) |
1.666 | Up | 0.0307 | |
| ||||||||||||
| Gregg, 2008_2 | mixed | lymphoblastoid cell lines | 17 (11.76%) | | | autism with early onset | autism | 12 (25.00%) |
1.924 | Up | 0.0182 | |
| ||||||||||||
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 |
| Krumm N, 2015 | 2377 | 1373 | 77 | Excess of rare, inherited truncating mutations in autism |
| Turner TN, 2016 | 53 | - | 27 | Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DN |
NGS Mosaic SNV Studies Top| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Lim ET, 2017 | - | 5947 | 376 | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
NGS 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.