Evidence Details for APBB2
Basic Information Top
| Gene Symbol: | APBB2 ( DKFZp434E033,FE65L,FE65L1,MGC35575 ) |
|---|---|
| Gene Full Name: | amyloid beta (A4) precursor protein-binding, family B, member 2 |
| Band: | 4p14-p13 |
| Quick Links | Entrez ID:323; OMIM: 602710; Uniprot ID:APBB2_HUMAN; ENSEMBL ID: ENSG00000163697; HGNC ID: 582 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>APBB2|323|nucleotide
ATGTCAGAAGTACTTCCAGCTGACTCAGGTGTTGACACCTTGGCAGTGTTTATGGCCAGCAGCGGAACTACAGACGTCACAAATCGGAACAGCCCAGCCACACCA
CCAAACACCCTTAACCTCCGATCCTCCCACAATGAACTGTTGAACGCTGAAATAAAACACACAGAAACCAAGAACAGCACACCTCCCAAATGCAGGAAAAAATAT
GCACTAACTAACATCCAGGCGGCCATGGGCCTCTCGGATCCAGCTGCACAGCCCCTGCTGGGAAATGGCTCTGCCAACATCAAGCTGGTGAAAAATGGGGAGAAC
CAGCTCCGTAAGGCTGCAGAGCAAGGGCAGCAGGACCCCAACAAAAACCTGAGCCCCACTGCAGTCATCAACATAACTTCTGAGAAGTTAGAGGGTAAAGAGCCC
CACCCACAGGATTCCTCGAGCTGTGAGATTTTACCCTCCCAGCCCAGGAGAACTAAGAGCTTCCTAAATTACTATGCAGATCTGGAAACCTCAGCCAGAGAACTA
GAGCAGAACCGAGGCAATCACCATGGGACTGCGGAAGAGAAATCCCAGCCAGTCCAGGGCCAGGCCTCCACCATCATTGGGAATGGCGATTTGCTGCTGCAGAAA
CCAAACAGACCCCAGTCCAGCCCTGAAGACGGCCAAGTAGCCACAGTGTCATCCAGCCCAGAAACCAAGAAGGATCATCCGAAAACAGGGGCCAAAACCGACTGT
GCACTGCACCGGATCCAGAACCTGGCACCGAGCGATGAGGAGTCCAGCTGGACAACGTTGTCCCAAGACAGTGCCTCACCCAGCTCCCCGGATGAAACAGATATA
TGGAGTGATCACTCATTTCAGACTGATCCAGATTTGCCGCCTGGCTGGAAAAGAGTCAGTGACATTGCCGGGACCTATTATTGGCACATCCCAACAGGAACGACT
CAGTGGGAACGGCCCGTCTCCATCCCAGCAGATCTCCAGGGTTCTAGGAAAGGGTCACTTAGTTCTGTAACGCCATCTCCCACCCCAGAGAACGAGAAACAGCCA
TGGAGTGATTTTGCTGTTCTGAATGGGGGAAAGATTAATAGTGACATTTGGAAGGATTTGCATGCAGCCACTGTTAACCCGGACCCCAGTTTAAAAGAGTTTGAA
Show »
ATGTCAGAAGTACTTCCAGCTGACTCAGGTGTTGACACCTTGGCAGTGTTTATGGCCAGCAGCGGAACTACAGACGTCACAAATCGGAACAGCCCAGCCACACCA
CCAAACACCCTTAACCTCCGATCCTCCCACAATGAACTGTTGAACGCTGAAATAAAACACACAGAAACCAAGAACAGCACACCTCCCAAATGCAGGAAAAAATAT
GCACTAACTAACATCCAGGCGGCCATGGGCCTCTCGGATCCAGCTGCACAGCCCCTGCTGGGAAATGGCTCTGCCAACATCAAGCTGGTGAAAAATGGGGAGAAC
CAGCTCCGTAAGGCTGCAGAGCAAGGGCAGCAGGACCCCAACAAAAACCTGAGCCCCACTGCAGTCATCAACATAACTTCTGAGAAGTTAGAGGGTAAAGAGCCC
CACCCACAGGATTCCTCGAGCTGTGAGATTTTACCCTCCCAGCCCAGGAGAACTAAGAGCTTCCTAAATTACTATGCAGATCTGGAAACCTCAGCCAGAGAACTA
GAGCAGAACCGAGGCAATCACCATGGGACTGCGGAAGAGAAATCCCAGCCAGTCCAGGGCCAGGCCTCCACCATCATTGGGAATGGCGATTTGCTGCTGCAGAAA
CCAAACAGACCCCAGTCCAGCCCTGAAGACGGCCAAGTAGCCACAGTGTCATCCAGCCCAGAAACCAAGAAGGATCATCCGAAAACAGGGGCCAAAACCGACTGT
GCACTGCACCGGATCCAGAACCTGGCACCGAGCGATGAGGAGTCCAGCTGGACAACGTTGTCCCAAGACAGTGCCTCACCCAGCTCCCCGGATGAAACAGATATA
TGGAGTGATCACTCATTTCAGACTGATCCAGATTTGCCGCCTGGCTGGAAAAGAGTCAGTGACATTGCCGGGACCTATTATTGGCACATCCCAACAGGAACGACT
CAGTGGGAACGGCCCGTCTCCATCCCAGCAGATCTCCAGGGTTCTAGGAAAGGGTCACTTAGTTCTGTAACGCCATCTCCCACCCCAGAGAACGAGAAACAGCCA
TGGAGTGATTTTGCTGTTCTGAATGGGGGAAAGATTAATAGTGACATTTGGAAGGATTTGCATGCAGCCACTGTTAACCCGGACCCCAGTTTAAAAGAGTTTGAA
Show »
>APBB2|323|protein
MSEVLPADSGVDTLAVFMASSGTTDVTNRNSPATPPNTLNLRSSHNELLNAEIKHTETKNSTPPKCRKKYALTNIQAAMGLSDPAAQPLLGNGSANIKLVKNGEN
QLRKAAEQGQQDPNKNLSPTAVINITSEKLEGKEPHPQDSSSCEILPSQPRRTKSFLNYYADLETSARELEQNRGNHHGTAEEKSQPVQGQASTIIGNGDLLLQK
PNRPQSSPEDGQVATVSSSPETKKDHPKTGAKTDCALHRIQNLAPSDEESSWTTLSQDSASPSSPDETDIWSDHSFQTDPDLPPGWKRVSDIAGTYYWHIPTGTT
QWERPVSIPADLQGSRKGSLSSVTPSPTPENEKQPWSDFAVLNGGKINSDIWKDLHAATVNPDPSLKEFEGATLRYASLKLRNAPHPDDDDSCSINSDPEAKCFA
VRSLGWVEMAEEDLAPGKSSVAVNNCIRQLSYCKNDIRDTVGIWGEGKDMYLILENDMLSLVDPMDRSVLHSQPIVSIRVWGVGRDNGRDFAYVARDKDTRILKC
Show »
MSEVLPADSGVDTLAVFMASSGTTDVTNRNSPATPPNTLNLRSSHNELLNAEIKHTETKNSTPPKCRKKYALTNIQAAMGLSDPAAQPLLGNGSANIKLVKNGEN
QLRKAAEQGQQDPNKNLSPTAVINITSEKLEGKEPHPQDSSSCEILPSQPRRTKSFLNYYADLETSARELEQNRGNHHGTAEEKSQPVQGQASTIIGNGDLLLQK
PNRPQSSPEDGQVATVSSSPETKKDHPKTGAKTDCALHRIQNLAPSDEESSWTTLSQDSASPSSPDETDIWSDHSFQTDPDLPPGWKRVSDIAGTYYWHIPTGTT
QWERPVSIPADLQGSRKGSLSSVTPSPTPENEKQPWSDFAVLNGGKINSDIWKDLHAATVNPDPSLKEFEGATLRYASLKLRNAPHPDDDDSCSINSDPEAKCFA
VRSLGWVEMAEEDLAPGKSSVAVNNCIRQLSYCKNDIRDTVGIWGEGKDMYLILENDMLSLVDPMDRSVLHSQPIVSIRVWGVGRDNGRDFAYVARDKDTRILKC
Show »
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 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 3 (3) |
Syndromic Autism Gene TopGenome-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 | ||||||
| Sabaratnam, 2000 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies Top| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Krupp DR, 2017 | - | 2264 | 247 | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
NGS 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.