Evidence Details for NAB1
Basic Information Top
| Gene Symbol: | NAB1 ( - ) |
|---|---|
| Gene Full Name: | NGFI-A binding protein 1 (EGR1 binding protein 1) |
| Band: | 2q32.2 |
| Quick Links | Entrez 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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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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MAAALPRTLGELQLYRILQKANLLSYFDAFIQQGGDDVQQLCEAGEEEFLEIMALVGMASKPLHVRRLQKALRDWVTNPGLFNQPLTSLPVSSIPIYKLPEGSPT
WLGISCSSYERSSNAREPHLKIPKCAATTCVQSLGQGKSDVVGSLALQSVGESRLWQGHHATESEHSLSPADLGSPASPKESSEALDAAAALSVAECVERMAPTL
PKSDLNEVKELLKTNKKLAKMIGHIFEMNDDDPHKEEEIRKYSAIYGRFDSKRKDGKHLTLHELTVNEAAAQLCVKDNALLTRRDELFALARQISREVTYKYTYR
TTKSKCGERDELSPKRIKVEDGFPDFQDSVQTLFQQARAKSEELAALSSQQPEKVMAKQMEFLCNQAGYERLQHAERRLSAGLYRQSSEEHSPNGLTSDNSDGQG
ERPLNLRMPNLQNRQPHHFVVDGELSRLYPSEAKSHSSESLGILKDYPHSAFTLEKKVIKTEPEDSR
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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 (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-band | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top



