AutismKB 2.0

Evidence Details for PYHIN1


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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 LinksEntrez 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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>PYHIN1|149628|protein
MANNYKKIVLLKGLEVINDYHFRIVKSLLSNDLKLNPKMKEEYDKIQIADLMEEKFPGDAGLGKLIEFFKEIPTLGDLAETLKREKLKVANKIESIPVKGIIPSK
KTKQKEVYPATPACTPSNRLTAKGAEETLGPQKRKKPSEEETGTKRSKMSKEQTRPSCSAGASTSTAMGRSPPPQTSSSAPPNTSSTESLKPLANRHATASKNIF
REDPIIAMVLNATKVFKYESSENEQRRMFHATVATQTQFFHVKVLNINLKRKFIKKRIIIISNYSKRNSLLEVNEASSVSEAGPDQTFEVPKDIIRRAKKIPKIN
ILHKQTSGYIVYGLFMLHTKIVNRKTTIYEIQDKTGSMAVVGKGECHNIPCEKGDKLRLFCFRLRKRENMSKLMSEMHSFIQIQKNTNQRSHDSRSMALPQEQSQ
HPKPSEASTTLPESHLKTPQMPPTTPSSSSFTKKDETHPGAQSSPANFRITSPTVAPPLSSDTSTNRHPAVP
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Evidence summary Top

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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 Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top