AutismKB 2.0

Evidence Details for BEND2


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Basic Information Top
Gene Symbol:BEND2 ( CXorf20,MGC33653 )
Gene Full Name: BEN domain containing 2
Band: Xp22.13
Quick LinksEntrez ID:139105; OMIM: NA; Uniprot ID:BEND2_HUMAN; ENSEMBL ID: ENSG00000177324; HGNC ID: 28509
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BEND2|139105|nucleotide
ATGTCAGAGAGGACCCAGGAACAGGATTTTGTTATTATAACTGTCGACGACAGTGATGATAACAATGATTGCAGTATTGAGATGGTGGAAGTTTCTGAAACAGCA
GATAATTCCACTAATGACATAGCAGATGATTCCACTTATGTCACAGCAGATAATCCCACTGATGACACAGCCACACAACCAAATTTTCCAGGCGGCAATGATGGC
CATCACCGTCCACTCCAAATGTCATATGGGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCAACCTCTTGGACTCAAG
CAATTCTTCCACCTCAGCCTTCCCAGTAGCTGGGATGACAGGCGCACGCCACCATGCCCAGTAGCCCATGGTGACCAAATAGTTTCACAGATAAACCACCCAGTA
CATTTAAGAAGATACAGTTACAACTCAGAGGAAGTGGATTTTCCAAAAAGAGGAAGATTCTATACTCCAGAGGTACAGTCTAGCATATCACCACCAGCGGAAAGG
CAGGAAACCCATGCCTGGGCCAGCCCTGCTGTAACATCTCTTGAGTCAGCAGCATGTCATGAACTGCAGGAAGCAGACCTCAGTGAGAGTTTATCATATCCCAGA
ATTGTCTCCTCAAGTTCATTACAGCAGTATGTCGCACAAGGTGGCTCATTTCCTTGTTTCGGTATGCCATGGAACTTTATCAGTGGAGGTGCTGAAAGTACCAAT
GCTGTCATCTCATTTGCCAATGCTACTACAGCAGTACCTATGGCAGTTCTGTCACGAAGAGAATCCAGTCTGGCAAATAACCCTGGTGTGGTGAATTACTCTGCT
CTACCAGAAAATGAAAATGTGGGCCCAGGTAGAGCCTTGTCATCTTTCTGCTTCCATCCCAATTTGGAATCTGGCCCACAAATGAGTTATGGGACAATGAGTTAC
TCAACTGAAATGAAAAATAACTGTGACCAAGATGATGCTTCAGCATCTGCCTGCCTCACTCCCGATTTTGCACTGTTACCTCTGAATATTTTGGTAAAAGTAGAC
ACCAACACGGAAAACAGCGTCAACACAATGAATCGCTCAACTTTATTGGACAGTGACAGTGGCCAGGATTCTTCCTCATCATCTGTCTGTATCCCTCCCAAGTAT
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>BEND2|139105|protein
MSERTQEQDFVIITVDDSDDNNDCSIEMVEVSETADNSTNDIADDSTYVTADNPTDDTATQPNFPGGNDGHHRPLQMSYGSGSVTQAGVQWHDHSSLQPQPLGLK
QFFHLSLPSSWDDRRTPPCPVAHGDQIVSQINHPVHLRRYSYNSEEVDFPKRGRFYTPEVQSSISPPAERQETHAWASPAVTSLESAACHELQEADLSESLSYPR
IVSSSSLQQYVAQGGSFPCFGMPWNFISGGAESTNAVISFANATTAVPMAVLSRRESSLANNPGVVNYSALPENENVGPGRALSSFCFHPNLESGPQMSYGTMSY
STEMKNNCDQDDASASACLTPDFALLPLNILVKVDTNTENSVNTMNRSTLLDSDSGQDSSSSSVCIPPKYGYLGDPKRNVRVLKIHLLAVQNMAKPKQAACYLVR
ILFSKEILISSSVDIHLKDSQSLDPNKMAALREYLATTFPTCDLHEHGKDWQDCISGINSMIYCLCSEGKSTPKTVRKNKKRTNRVASASADRNDQRGRDGGEGC
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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 (0) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Vazna, 2010 Czech aCGHASD - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Linkage Studies Top