Evidence Details for APBB1
Basic Information Top
| Gene Symbol: | APBB1 ( FE65,MGC:9072,RIR ) |
|---|---|
| Gene Full Name: | amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) |
| Band: | 11p15.4 |
| Quick Links | Entrez ID:322; OMIM: 602709; Uniprot ID:APBB1_HUMAN; ENSEMBL ID: ENSG00000166313; HGNC ID: 581 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>APBB1|322|nucleotide
ATGTCTGTTCCATCATCACTGAGCCAGTCGGCCATTAATGCCAACAGCCACGGAGGCCCCGCACTGAGCCTACCCCTGCCTCTGCACGCTGCCCACAACCAGCTG
CTCAACGCCAAGCTGCAGGCCACAGCTGTGGGACCCAAGGACCTGCGCAGCGCCATGGGGGAGGGTGGTGGGCCTGAGCCAGGCCCTGCCAATGCCAAGTGGCTA
AAAGAGGGCCAGAACCAGCTCCGGCGGGCCGCCACGGCCCACCGTGACCAGAATCGCAATGTGACCTTGACCTTGGCGGAGGAGGCCAGCCAGGAGCCTGAGATG
GCACCCTTGGGCCCCAAAGGCCTGATACACCTGTACTCTGAGCTGGAGCTCTCAGCTCACAACGCAGCCAACCGAGGCCTACGAGGACCTGGCCTGATCATCAGC
ACTCAAGAGCAGGGGCCAGATGAGGGAGAGGAGAAGGCGGCCGGGGAGGCCGAGGAGGAGGAGGAGGATGATGATGATGAAGAGGAGGAGGAGGACTTATCTTCT
CCCCCAGGGCTGCCTGAGCCCCTGGAGAGTGTGGAGGCCCCTCCCAGGCCCCAAGCCCTTACAGATGGCCCCCGGGAACACAGCAAGAGTGCCAGCCTCCTGTTT
GGCATGCGGAACAGTGCAGCCAGTGATGAGGACTCAAGCTGGGCTACCTTATCCCAGGGCAGCCCCTCCTATGGCTCCCCAGAGGACACAGATTCCTTCTGGAAC
CCCAACGCCTTCGAGACGGATTCCGACCTGCCGGCTGGATGGATGAGGGTCCAGGACACCTCAGGGACCTATTACTGGCACATCCCAACAGGGACCACCCAGTGG
GAACCCCCCGGCCGGGCCTCCCCCTCACAGGGGAGCAGCCCCCAAGAGGAGTCCCAGCTCACCTGGACAGGTTTTGCTCATGGAGAAGGCTTTGAGGATGGAGAA
TTTTGGAAGGATGAACCCAGTGATGAGGCCCCAATGGAGCTGGGACTGAAGGAACCTGAGGAGGGGACGTTGACCTTCCCAGCTCAGAGCCTCAGCCCAGAGCCG
TTGCCCCAAGAGGAGGAGAAGCTTCCCCCACGGAATACCAACCCAGGGATCAAGTGTTTCGCCGTGCGCTCCCTAGGCTGGGTAGAGATGACCGAGGAGGAGCTG
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ATGTCTGTTCCATCATCACTGAGCCAGTCGGCCATTAATGCCAACAGCCACGGAGGCCCCGCACTGAGCCTACCCCTGCCTCTGCACGCTGCCCACAACCAGCTG
CTCAACGCCAAGCTGCAGGCCACAGCTGTGGGACCCAAGGACCTGCGCAGCGCCATGGGGGAGGGTGGTGGGCCTGAGCCAGGCCCTGCCAATGCCAAGTGGCTA
AAAGAGGGCCAGAACCAGCTCCGGCGGGCCGCCACGGCCCACCGTGACCAGAATCGCAATGTGACCTTGACCTTGGCGGAGGAGGCCAGCCAGGAGCCTGAGATG
GCACCCTTGGGCCCCAAAGGCCTGATACACCTGTACTCTGAGCTGGAGCTCTCAGCTCACAACGCAGCCAACCGAGGCCTACGAGGACCTGGCCTGATCATCAGC
ACTCAAGAGCAGGGGCCAGATGAGGGAGAGGAGAAGGCGGCCGGGGAGGCCGAGGAGGAGGAGGAGGATGATGATGATGAAGAGGAGGAGGAGGACTTATCTTCT
CCCCCAGGGCTGCCTGAGCCCCTGGAGAGTGTGGAGGCCCCTCCCAGGCCCCAAGCCCTTACAGATGGCCCCCGGGAACACAGCAAGAGTGCCAGCCTCCTGTTT
GGCATGCGGAACAGTGCAGCCAGTGATGAGGACTCAAGCTGGGCTACCTTATCCCAGGGCAGCCCCTCCTATGGCTCCCCAGAGGACACAGATTCCTTCTGGAAC
CCCAACGCCTTCGAGACGGATTCCGACCTGCCGGCTGGATGGATGAGGGTCCAGGACACCTCAGGGACCTATTACTGGCACATCCCAACAGGGACCACCCAGTGG
GAACCCCCCGGCCGGGCCTCCCCCTCACAGGGGAGCAGCCCCCAAGAGGAGTCCCAGCTCACCTGGACAGGTTTTGCTCATGGAGAAGGCTTTGAGGATGGAGAA
TTTTGGAAGGATGAACCCAGTGATGAGGCCCCAATGGAGCTGGGACTGAAGGAACCTGAGGAGGGGACGTTGACCTTCCCAGCTCAGAGCCTCAGCCCAGAGCCG
TTGCCCCAAGAGGAGGAGAAGCTTCCCCCACGGAATACCAACCCAGGGATCAAGTGTTTCGCCGTGCGCTCCCTAGGCTGGGTAGAGATGACCGAGGAGGAGCTG
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>APBB1|322|protein
MSVPSSLSQSAINANSHGGPALSLPLPLHAAHNQLLNAKLQATAVGPKDLRSAMGEGGGPEPGPANAKWLKEGQNQLRRAATAHRDQNRNVTLTLAEEASQEPEM
APLGPKGLIHLYSELELSAHNAANRGLRGPGLIISTQEQGPDEGEEKAAGEAEEEEEDDDDEEEEEDLSSPPGLPEPLESVEAPPRPQALTDGPREHSKSASLLF
GMRNSAASDEDSSWATLSQGSPSYGSPEDTDSFWNPNAFETDSDLPAGWMRVQDTSGTYYWHIPTGTTQWEPPGRASPSQGSSPQEESQLTWTGFAHGEGFEDGE
FWKDEPSDEAPMELGLKEPEEGTLTFPAQSLSPEPLPQEEEKLPPRNTNPGIKCFAVRSLGWVEMTEEELAPGRSSVAVNNCIRQLSYHKNNLHDPMSGGWGEGK
DLLLQLEDETLKLVEPQSQALLHAQPIISIRVWGVGRDSGRERDFAYVARDKLTQMLKCHVFRCEAPAKNIATSLHEICSKIMAERRNARCLVNGLSLDHSKLVD
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MSVPSSLSQSAINANSHGGPALSLPLPLHAAHNQLLNAKLQATAVGPKDLRSAMGEGGGPEPGPANAKWLKEGQNQLRRAATAHRDQNRNVTLTLAEEASQEPEM
APLGPKGLIHLYSELELSAHNAANRGLRGPGLIISTQEQGPDEGEEKAAGEAEEEEEDDDDEEEEEDLSSPPGLPEPLESVEAPPRPQALTDGPREHSKSASLLF
GMRNSAASDEDSSWATLSQGSPSYGSPEDTDSFWNPNAFETDSDLPAGWMRVQDTSGTYYWHIPTGTTQWEPPGRASPSQGSSPQEESQLTWTGFAHGEGFEDGE
FWKDEPSDEAPMELGLKEPEEGTLTFPAQSLSPEPLPQEEEKLPPRNTNPGIKCFAVRSLGWVEMTEEELAPGRSSVAVNNCIRQLSYHKNNLHDPMSGGWGEGK
DLLLQLEDETLKLVEPQSQALLHAQPIISIRVWGVGRDSGRERDFAYVARDKLTQMLKCHVFRCEAPAKNIATSLHEICSKIMAERRNARCLVNGLSLDHSKLVD
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Evidence summary TopClick 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 (0) | 0 (0) | 0 (0) | 2 (2) | 0 (3) | 0 (0) | 0 (0) | 0 (0) | 2 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 2
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Nishimura, 2007_1 | America | lymphoblastoid cell lines | 8 (-) |  | | autism with FMR1-FM | autism | 15 (-) |
1.26 | Up | 0.0000012 | |
| ||||||||||||
| Nishimura, 2007_2 | America | lymphoblastoid cell lines | 7 (-) | | | autism with dup(15q) | autism | 15 (-) |
1.23 | Up | 0.0000012 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
| Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
| Liu Y, 2018 | - | 300 | 4 | A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Stu |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.