AutismKB 2.0

Evidence Details for PHLDB1


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Basic Information Top
Gene Symbol:PHLDB1 ( DKFZp686H039,DKFZp686O24210,FLJ00141,FLJ90266,KIAA0638,LL5A,MGC111531 )
Gene Full Name: pleckstrin homology-like domain, family B, member 1
Band: 11q23.3
Quick LinksEntrez ID:23187; OMIM: 612834; Uniprot ID:PHLB1_HUMAN; ENSEMBL ID: ENSG00000019144; HGNC ID: 23697
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PHLDB1|23187|nucleotide
ATGGACGCTCTCAATAGGAACCAAATAGGCCCTGGATGCCAGACCCAGACCATGGTGCAGAAAGGACCCTTGGACCTGATCGAGACAGGCAAAGGGCTGAAAGTG
CAAACGGACAAACCCCACCTGGTGAGCCTGGGCAGTGGGCGACTCAGCACAGCCATCACCCTCCTGCCGCTGGAGGAAGGGAGGACGGTGATTGGCTCTGCAGCC
AGAGACATCTCACTACAGGGCCCAGGCCTGGCTCCAGAGCACTGCTACATCGAGAACCTGCGGGGCACCCTCACCCTCTACCCCTGTGGCAATGCCTGCACTATT
GATGGGCTCCCTGTCCGGCAGCCTACCCGGCTCACTCAGGGCTGCATGTTGTGCCTGGGTCAGTCCACCTTCCTTCGCTTTAACCACCCGGCTGAAGCCAAGTGG
ATGAAAAGCATGATTCCAGCAGGGGGCCGAGCCCCTGGGCCCCCCTACAGCCCTGTTCCTGCAGAATCAGAAAGTCTGGTAAATGGGAACCACACCCCACAGACT
GCAACACGGGGACCCTCTGCCTGTGCCAGCCACAGTTCCCTGGTGAGCTCTATTGAGAAGGACCTGCAAGAGATCATGGACTCACTGGTGCTAGAGGAGCCTGGA
GCTGCTGGCAAGAAGCCTGCCGCAACCTCTCCACTGTCACCGATGGCTAATGGTGGGCGCTACCTGCTGTCTCCCCCAACCAGCCCCGGCGCCATGTCTGTGGGC
TCCAGCTATGAGAACACCTCTCCAGCCTTCTCTCCACTCTCTTCACCAGCCAGCAGTGGAAGCTGTGCCAGTCACTCACCCAGTGGGCAAGAGCCAGGACCTTCT
GTGCCCCCGCTGGTACCTGCCCGTTCCTCCAGCTACCATCTGGCCCTACAGCCCCCACAGTCCCGCCCAAGTGGTGCTCGCTCCGAGAGTCCTCGGCTGAGCAGG
AAAGGGGGCCATGAGAGGCCTCCCAGCCCTGGCCTCCGGGGTCTGCTGACAGACAGCCCTGCAGCTACTGTCTTGGCGGAGGCCCGGAGAGCCACTGAGAGCCCC
CGGCTGGGTGGGCAGCTGCCTGTGGTGGCCATCAGCCTGAGTGAATACCCAGCTTCTGGTGCTCTCAGTCAACCCACCAGCATTCCTGGCAGCCCCAAGTTTCAG
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>PHLDB1|23187|protein
MDALNRNQIGPGCQTQTMVQKGPLDLIETGKGLKVQTDKPHLVSLGSGRLSTAITLLPLEEGRTVIGSAARDISLQGPGLAPEHCYIENLRGTLTLYPCGNACTI
DGLPVRQPTRLTQGCMLCLGQSTFLRFNHPAEAKWMKSMIPAGGRAPGPPYSPVPAESESLVNGNHTPQTATRGPSACASHSSLVSSIEKDLQEIMDSLVLEEPG
AAGKKPAATSPLSPMANGGRYLLSPPTSPGAMSVGSSYENTSPAFSPLSSPASSGSCASHSPSGQEPGPSVPPLVPARSSSYHLALQPPQSRPSGARSESPRLSR
KGGHERPPSPGLRGLLTDSPAATVLAEARRATESPRLGGQLPVVAISLSEYPASGALSQPTSIPGSPKFQPPVPAPRNKIGTLQDRPPSPFREPPGSERVLTTSP
SRQLVGRTFSDGLATRTLQPPESPRLGRRGLDSMRELPPLSPSLSRRALSPLPTRTTPDPKLNREVAESPRPRRWAAHGASPEDFSLTLGARGRRTRSPSPTLGE
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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) 0 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (2)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top