AutismKB 2.0

Evidence Details for NLRP14


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Basic Information Top
Gene Symbol:NLRP14 ( CLR11.2,GC-LRR,NALP14,NOD5,PAN8 )
Gene Full Name: NLR family, pyrin domain containing 14
Band: 11p15.4
Quick LinksEntrez ID:338323; OMIM: 609665; Uniprot ID:NAL14_HUMAN; ENSEMBL ID: ENSG00000158077; HGNC ID: 22939
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NLRP14|338323|nucleotide
ATGGCAGATTCATCATCATCTTCTTTCTTTCCTGATTTTGGGCTGCTATTGTATTTGGAGGAGCTAAACAAAGAGGAATTAAATACATTCAAGTTATTCCTAAAG
GAGACCATGGAACCTGAGCATGGCCTGACACCCTGGAATGAAGTGAAGAAGGCCAGGCGGGAGGACCTGGCCAATTTGATGAAGAAATATTATCCAGGAGAGAAA
GCCTGGAGTGTGTCTCTCAAAATCTTTGGCAAGATGAACCTGAAGGATCTGTGTGAGAGAGCGAAAGAAGAGATCAACTGGTCGGCCCAGACTATAGGACCAGAT
GATGCCAAGGCTGGAGAGACACAAGAAGATCAGGAGGCAGTGCTGGGTGATGGAACAGAATACAGAAATAGAATAAAGGAAAAATTTTGCATCACTTGGGACAAG
AAGTCTTTGGCTGGAAAGCCTGAAGATTTCCATCATGGAATTGCAGAGAAAGATAGAAAACTGTTGGAACACTTGTTCGATGTGGATGTCAAAACCGGTGCACAG
CCACAGATCGTGGTGCTTCAGGGAGCTGCTGGAGTTGGGAAAACAACCTTGGTGAGAAAGGCAATGTTAGATTGGGCAGAGGGCAGTCTCTACCAGCAGAGGTTT
AAGTATGTTTTTTATCTCAATGGGAGAGAAATTAACCAGCTGAAAGAGAGAAGCTTTGCTCAATTGATATCAAAGGACTGGCCCAGCACAGAAGGCCCCATTGAA
GAAATCATGTACCAGCCAAGTAGCCTCTTGTTTATTATTGACAGTTTCGATGAACTGAACTTTGCCTTTGAAGAACCTGAGTTTGCACTGTGCGAAGACTGGACC
CAAGAACACCCAGTGTCCTTCCTCATGAGTAGTTTGCTGAGGAAAGTGATGCTCCCTGAGGCATCCTTATTGGTGACAACAAGACTCACAACTTCTAAGAGACTA
AAGCAGTTGTTGAAGAATCACCATTATGTAGAGCTACTAGGAATGTCTGAGGATGCAAGAGAGGAGTATATTTACCAGTTTTTTGAAGATAAGAGGTGGGCCATG
AAAGTATTCAGTTCACTAAAAAGCAATGAGATGCTGTTTAGCATGTGCCAAGTCCCCCTAGTGTGCTGGGCCGCTTGTACTTGTCTGAAGCAGCAAATGGAGAAG
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>NLRP14|338323|protein
MADSSSSSFFPDFGLLLYLEELNKEELNTFKLFLKETMEPEHGLTPWNEVKKARREDLANLMKKYYPGEKAWSVSLKIFGKMNLKDLCERAKEEINWSAQTIGPD
DAKAGETQEDQEAVLGDGTEYRNRIKEKFCITWDKKSLAGKPEDFHHGIAEKDRKLLEHLFDVDVKTGAQPQIVVLQGAAGVGKTTLVRKAMLDWAEGSLYQQRF
KYVFYLNGREINQLKERSFAQLISKDWPSTEGPIEEIMYQPSSLLFIIDSFDELNFAFEEPEFALCEDWTQEHPVSFLMSSLLRKVMLPEASLLVTTRLTTSKRL
KQLLKNHHYVELLGMSEDAREEYIYQFFEDKRWAMKVFSSLKSNEMLFSMCQVPLVCWAACTCLKQQMEKGGDVTLTCQTTTALFTCYISSLFTPVDGGSPSLPN
QAQLRRLCQVAAKGIWTMTYVFYRENLRRLGLTQSDVSSFMDSNIIQKDAEYENCYVFTHLHVQEFFAAMFYMLKGSWEAGNPSCQPFEDLKSLLQSTSYKDPHL
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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Linkage Studies Top