AutismKB 2.0

Evidence Details for NBPF14


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Basic Information Top
Gene Symbol:NBPF14 ( DJ328E19.C1.1,FLJ35032,FLJ60520,NBPF )
Gene Full Name: neuroblastoma breakpoint family, member 14
Band: 1q21.2
Quick LinksEntrez ID:25832; OMIM: NA; Uniprot ID:NBPFE_HUMAN; ENSEMBL ID: ENSG00000122497; HGNC ID: 25232
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NBPF14|25832|nucleotide
ATGCTGAGGAATGAGCGACAGTTCAAGGAGGAGAAGCTTGCAGAGCAGCTCAAGCAAGCTGAGGAGCTCAGGCAATATAAAGTCCTGGTTCACGCTCAGGAACGA
GAGCTGACCCAGTTAAGGGAGAAGTTGCGGGAAGGGAGAGATGCCTCCCGCTCATTGAATGAGCATCTCCAGGCCCTCCTCACTCCGGATGAGCCGGACAAGTCC
CAGGGGCAGGACCTCCAAGAACAGCTGGCTGAGGGGTGTAGACTGGCACAGCACCTTGTCCAAAAGCTCAGCCCAGAAAATGACAACGATGACGATGAAGATGTT
CAAGTTGAGGTGGCTGAGAAAGTGCAGAAATCGTCTGCCCCCAGGGAGATGCAGAAGGCTGAAGAAAAGGAAGTCCCTGAGGACTCACTGGAGGAATGTGCCATC
ACTTGTTCAAATAGCCATGGCCCTTATGACTCCAACCAGCCACATAGGAAAACCAAAATCACATTTGAGGAAGACAAAGTCGACTCAACTCTCATTGGCTCATCC
TCTCATGTTGAATGGGAGGATGCTGTACACATTATTCCAGAAAATGAAAGTGATGATGAGGAAGAGGAAGAAAAAGGACCAGTGTCTCCCAGGAATCTGCAGGAG
TCTGAAGAGGAGGAAGTCCCCCAGGAGTCCTGGGATGAAGGTTATTCGACTCTCTCAATTCCTCCTGAAATGTTGGCCTCGTACAAGTCTTACAGCAGCACATTT
CACTCATTAGAGGAACAGCAAGTCTGCATGGCTGTTGACATAGGCAGACATCGGTGGGATCAAGTGAAAAAGGAGGACCACGAGGCAACAGGTCCCAGGCTCAGC
AGAGAGCTGCTGGATGAGAAAGGGCCTGAAGTCTTGCAGGACTCACTGGATAGATGTTATTCAACTCCTTCAGGTTGTCTTGAACTGACTGACTCATGCCAGCCC
TACAGAAGTGCCTTTTACGTATTGGAGCAACAGCGTGTTGGCTTGGCTGTTAACATGGATGAAATTGAAAAGTACCAAGAAGTGGAAGAAGACCAAGACCCATCA
TGCCCCAGGCTCAGCAGGGAGCTGCTGGATGAGAAAGAGCCTGAAGTCTTGCAGGACTCACTGGGTAGATGTTATTCGACTCCTTCAGGTTATCTTGAACTGCCT
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>NBPF14|25832|protein
MLRNERQFKEEKLAEQLKQAEELRQYKVLVHAQERELTQLREKLREGRDASRSLNEHLQALLTPDEPDKSQGQDLQEQLAEGCRLAQHLVQKLSPENDNDDDEDV
QVEVAEKVQKSSAPREMQKAEEKEVPEDSLEECAITCSNSHGPYDSNQPHRKTKITFEEDKVDSTLIGSSSHVEWEDAVHIIPENESDDEEEEEKGPVSPRNLQE
SEEEEVPQESWDEGYSTLSIPPEMLASYKSYSSTFHSLEEQQVCMAVDIGRHRWDQVKKEDHEATGPRLSRELLDEKGPEVLQDSLDRCYSTPSGCLELTDSCQP
YRSAFYVLEQQRVGLAVNMDEIEKYQEVEEDQDPSCPRLSRELLDEKEPEVLQDSLGRCYSTPSGYLELPDLGQPYSSAVYSLEEQYLGLALDVDRIKKDQEEEE
DQGPPCPRLSRELLEVVEPEVLQDSLDRCYSTPSSCLEQPDSCQPYGSSFYALEEKHVGFSLDVGEIEKKGKGKKRRGRRSKKERRRGRKEGEEDQNPPCPRLSR
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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 (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
Mefford, 2008 - aCGHautism - - - - 2 - 2
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top