AutismKB 2.0

Evidence Details for NFRKB


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:NFRKB ( DKFZp547B2013,INO80G )
Gene Full Name: nuclear factor related to kappaB binding protein
Band: 11q24.3
Quick LinksEntrez ID:4798; OMIM: 164013; Uniprot ID:NFRKB_HUMAN; ENSEMBL ID: ENSG00000170322; HGNC ID: 7802
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NFRKB|4798|nucleotide
ATGGATTCCTTAGACCATATGCTGACAGATCCTCTGGAACTTGGTCCGTGTGGAGATGGCCATGGCACGCGCATCATGGAGGATTGCCTCCTGGGAGGCACCAGA
GTTAGTCTGCCCGAGGACCTTCTGGAGGATCCTGAGATCTTCTTTGATGTTGTCAGCCTCTCAACATGGCAGGAAGTGTTAAGTGATTCTCAACGTGAACACCTC
CAGCAGTTTCTGCCCCAGTTTCCTGAAGACAGTGCTGAGCAGCAGAATGAACTCATCTTAGCCTTGTTCAGTGGGGAGAACTTCCGCTTTGGAAACCCTCTGCAC
ATTGCCCAGAAGCTTTTCCGAGACGGACACTTTAACCCCGAGGTGGTCAAGTACCGGCAGTTATGCTTCAAGTCACAGTACAAGCGCTACCTCAACTCCCAGCAG
CAGTATTTCCATCGGCTGCTGAAGCAAATTCTTGCTTCCCGGAGTGATCTGCTGGAGATGGCCCGGCGGAGTGGCCCCGCCCTTCCCTTCCGGCAGAAACGCCCT
TCACCATCCCGCACACCTGAGGAGCGGGAGTGGCGGACCCAGCAGCGCTACTTGAAGGTCTTAAGGGAAGTGAAAGAGGAGTGTGGTGACACAGCCCTGTCATCT
GATGAAGAGGATCTCAGCTCATGGCTTCCGAGCTCTCCAGCACGTTCTCCTAGTCCTGCGGTGCCCCTGCGGGTGGTGCCCACACTTTCAACCACGGATATGAAA
ACTGCAGATAAAGTAGAACTGGGGGACAGTGACCTGAAGATAATGTTAAAGAAGCACCACGAGAAGCGGAAACATCAGCCAGATCACCCGGACCTTTTGACAGGG
GACCTGACTCTCAATGACATCATGACTCGAGTAAATGCTGGCAGGAAGGGCTCTCTGGCAGCCTTATATGACTTGGCTGTCCTTAAAAAAAAGGTTAAGGAAAAA
GAGGAAAAGAAGAAGAAGAAAATAAAAACGATCAAATCAGAGGCAGAGGACCTGGCCGAGCCGCTAAGCAGTACTGAAGGGGTCGCACCTCTCTCACAGGCCCCC
TCTCCGCTGGCAATTCCTGCTATCAAGGAAGAGCCCCTTGAAGACCTCAAGCCTTGCCTTGGAATCAATGAAATATCTTCCAGCTTCTTCTCTCTTCTATTAGAG
Show »

>NFRKB|4798|protein
MDSLDHMLTDPLELGPCGDGHGTRIMEDCLLGGTRVSLPEDLLEDPEIFFDVVSLSTWQEVLSDSQREHLQQFLPQFPEDSAEQQNELILALFSGENFRFGNPLH
IAQKLFRDGHFNPEVVKYRQLCFKSQYKRYLNSQQQYFHRLLKQILASRSDLLEMARRSGPALPFRQKRPSPSRTPEEREWRTQQRYLKVLREVKEECGDTALSS
DEEDLSSWLPSSPARSPSPAVPLRVVPTLSTTDMKTADKVELGDSDLKIMLKKHHEKRKHQPDHPDLLTGDLTLNDIMTRVNAGRKGSLAALYDLAVLKKKVKEK
EEKKKKKIKTIKSEAEDLAEPLSSTEGVAPLSQAPSPLAIPAIKEEPLEDLKPCLGINEISSSFFSLLLEILLLESQASLPMLEERVLDWQSSPASSLNSWFSAA
PNWAELVLPALQYLAGESRAVPSSFSPFVEFKEKTQQWKLLGQSQDNEKELAALFQLWLETKDQAFCKQENEDSSDATTPVPRVRTDYVVRPSTGEEKRVFQEQE
Show »

Evidence summary Top

Click 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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (3)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top