AutismKB 2.0

Evidence Details for APBB2


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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 LinksEntrez 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
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>APBB2|323|protein
MSEVLPADSGVDTLAVFMASSGTTDVTNRNSPATPPNTLNLRSSHNELLNAEIKHTETKNSTPPKCRKKYALTNIQAAMGLSDPAAQPLLGNGSANIKLVKNGEN
QLRKAAEQGQQDPNKNLSPTAVINITSEKLEGKEPHPQDSSSCEILPSQPRRTKSFLNYYADLETSARELEQNRGNHHGTAEEKSQPVQGQASTIIGNGDLLLQK
PNRPQSSPEDGQVATVSSSPETKKDHPKTGAKTDCALHRIQNLAPSDEESSWTTLSQDSASPSSPDETDIWSDHSFQTDPDLPPGWKRVSDIAGTYYWHIPTGTT
QWERPVSIPADLQGSRKGSLSSVTPSPTPENEKQPWSDFAVLNGGKINSDIWKDLHAATVNPDPSLKEFEGATLRYASLKLRNAPHPDDDDSCSINSDPEAKCFA
VRSLGWVEMAEEDLAPGKSSVAVNNCIRQLSYCKNDIRDTVGIWGEGKDMYLILENDMLSLVDPMDRSVLHSQPIVSIRVWGVGRDNGRDFAYVARDKDTRILKC
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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 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 3 (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
Sabaratnam, 2000 - FISHautism - - - - 1 - 1
Linkage Studies Top