AutismKB 2.0

Evidence Details for NAB1


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Basic Information Top
Gene Symbol:NAB1 ( - )
Gene Full Name: NGFI-A binding protein 1 (EGR1 binding protein 1)
Band: 2q32.2
Quick LinksEntrez ID:4664; OMIM: 600800; Uniprot ID:NAB1_HUMAN; ENSEMBL ID: ENSG00000138386; HGNC ID: 7626
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NAB1|4664|nucleotide
ATGGCTGCGGCCTTACCCAGGACCCTGGGGGAGTTGCAGCTGTATAGAATATTACAAAAAGCCAATCTACTTTCTTATTTTGATGCCTTTATCCAACAAGGTGGT
GATGATGTCCAGCAACTCTGTGAAGCAGGAGAAGAGGAGTTTTTGGAAATCATGGCACTCGTGGGCATGGCTAGCAAGCCCCTTCATGTTAGAAGGCTGCAGAAG
GCTTTGAGAGACTGGGTCACAAACCCTGGGCTTTTCAATCAGCCACTGACTTCCCTTCCTGTCAGTAGCATACCCATCTATAAATTACCAGAGGGATCACCAACA
TGGCTGGGAATATCCTGCAGTAGTTATGAAAGGAGTAGCAATGCCCGGGAACCTCATTTAAAAATCCCCAAATGTGCTGCCACCACCTGTGTGCAGAGCTTGGGA
CAGGGGAAGTCAGATGTGGTTGGGAGCCTAGCACTGCAGAGTGTTGGTGAGTCCAGACTCTGGCAAGGCCACCATGCCACTGAGAGCGAGCACAGCCTCTCCCCA
GCAGACCTGGGCTCCCCCGCGTCCCCAAAGGAGAGCAGTGAGGCGCTGGATGCTGCTGCTGCGCTCTCTGTGGCTGAGTGTGTGGAGCGGATGGCCCCCACACTG
CCAAAAAGTGACTTGAATGAAGTGAAAGAGCTGCTAAAAACCAACAAGAAGTTGGCCAAAATGATTGGTCACATCTTTGAGATGAACGATGATGATCCACACAAA
GAGGAGGAAATTCGGAAATACAGTGCAATATATGGCAGATTTGACTCAAAGAGGAAGGATGGGAAACATCTCACACTTCATGAGCTCACTGTTAATGAAGCGGCT
GCTCAACTCTGTGTGAAGGATAATGCCCTGCTGACAAGAAGAGATGAGCTTTTTGCCTTGGCTCGACAGATTTCTCGAGAAGTCACCTATAAATATACTTACAGA
ACCACCAAGTCAAAATGTGGAGAAAGAGATGAATTATCCCCAAAGAGAATTAAAGTGGAGGATGGGTTTCCAGATTTCCAGGATTCTGTGCAAACACTCTTCCAG
CAGGCTAGAGCTAAGAGTGAAGAACTTGCAGCTCTTAGTTCACAGCAGCCTGAAAAGGTGATGGCAAAGCAGATGGAGTTCCTTTGCAACCAAGCTGGCTATGAG
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>NAB1|4664|protein
MAAALPRTLGELQLYRILQKANLLSYFDAFIQQGGDDVQQLCEAGEEEFLEIMALVGMASKPLHVRRLQKALRDWVTNPGLFNQPLTSLPVSSIPIYKLPEGSPT
WLGISCSSYERSSNAREPHLKIPKCAATTCVQSLGQGKSDVVGSLALQSVGESRLWQGHHATESEHSLSPADLGSPASPKESSEALDAAAALSVAECVERMAPTL
PKSDLNEVKELLKTNKKLAKMIGHIFEMNDDDPHKEEEIRKYSAIYGRFDSKRKDGKHLTLHELTVNEAAAQLCVKDNALLTRRDELFALARQISREVTYKYTYR
TTKSKCGERDELSPKRIKVEDGFPDFQDSVQTLFQQARAKSEELAALSSQQPEKVMAKQMEFLCNQAGYERLQHAERRLSAGLYRQSSEEHSPNGLTSDNSDGQG
ERPLNLRMPNLQNRQPHHFVVDGELSRLYPSEAKSHSSESLGILKDYPHSAFTLEKKVIKTEPEDSR
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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 (1) 1 (1) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Gallagher, 2003 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Linkage Studies Top