AutismKB 2.0

Evidence Details for EXPH5


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Basic Information Top
Gene Symbol:EXPH5 ( DKFZp586F1223,DKFZp781H0795,KIAA0624,MGC133291,MGC134967,SLAC2-B,SLAC2B )
Gene Full Name: exophilin 5
Band: 11q22.3
Quick LinksEntrez ID:23086; OMIM: 612878; Uniprot ID:Q149M6_HUMAN; ENSEMBL ID: ENSG00000110723; HGNC ID: 30578
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EXPH5|23086|nucleotide
ATGACGAAAGTTCCTCCGGCGTTTGATTTCAGTTTCTTAAATGACGAAGAGGCCAGGAAGATCCTTCAGGTGCTGGAAAGGAATGAGGAGTTACAGAGGGCCGAG
AAGGACAGGATCAGCAAACTTCAGAAGACAAAGAGGGATATCAGATGGCTTCAGGGAGTGACTGGTGAATGGTTTGAAGAAATTCAAAGAAAAAAGTTTTGCAAT
GAAACAGATGTTAGCCAAATGTTAAAACAACCACTTACATACAGGCTAAGTAAGGAGATGGCAAAAAATGATCCGATAGAATTACCTACATCAAGATCTAAAAAT
GTAACTAATCAAAAAAAGCCGACACCTTTTTCTTCCCGGATGAGCTTCAGATCGTCATTTGCTTCCCTGTTCTCATTCAGGAAATCTGGAAAGGAGACTTCAAAG
CTTCCATCACTGGGACAGAAAGGATGTGATGGCCATGCAGGACCTCCTATGCCTGTGAGGGGAGCTGCTGTGCAGGCAAAAATATACAATTCACCTCTGGAAAAT
CATCTAGTTGACAGTACATTTGTCCCAAAGCCAGCAGTCATGAGGGAGGAGAGTGGCATGCCTCCACCGTGGGATGCTTCACTGCTGGAGAATGAGTTTTTCCAA
GTTTTAGATGACTTGGATAGCAAATTGGCTCAGGAACAGTCTGCAAGCTCAGTGAATACCAGAACACCCCTCAACTATGGATCAAGAACACAGTTCGGTCACTTT
TATTCCAGTGGTAACAGACATGGTAATATCACAGAAAGGCACAAAAAACACTATAATGAAACTTCCAATATGTCTATCTATGACATCCTAAGACCAGGAACTCCT
AGGGAAGGTTTTAAAACCTTTTCTCCTAGGACAAGCACAATTTATGATATGTATAGGACAAGGGAGCCCAGAGTCTTTAAAGAAGATTATGTGCAAAAGAATACT
TTTGGCAGTACTTCGCTGTGTTTTGACAGCAGGCAACGGTCGGCCTTACCAGCCACAGGGCATTTCACAGCAAGAAGCTTACATTTTCCAGCCACAACTCAGAGC
AAGAGTGGGTTTATACCACCAAGGCACCAGCAGAGTCCAAAGAGAACTCCTTTATCATCCATCATATGGAACAGATCAGATTCCTCTAGAGACAGGGAGAACCAG
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>EXPH5|23086|protein
MTKVPPAFDFSFLNDEEARKILQVLERNEELQRAEKDRISKLQKTKRDIRWLQGVTGEWFEEIQRKKFCNETDVSQMLKQPLTYRLSKEMAKNDPIELPTSRSKN
VTNQKKPTPFSSRMSFRSSFASLFSFRKSGKETSKLPSLGQKGCDGHAGPPMPVRGAAVQAKIYNSPLENHLVDSTFVPKPAVMREESGMPPPWDASLLENEFFQ
VLDDLDSKLAQEQSASSVNTRTPLNYGSRTQFGHFYSSGNRHGNITERHKKHYNETSNMSIYDILRPGTPREGFKTFSPRTSTIYDMYRTREPRVFKEDYVQKNT
FGSTSLCFDSRQRSALPATGHFTARSLHFPATTQSKSGFIPPRHQQSPKRTPLSSIIWNRSDSSRDRENQEEFLRAPSPMEIDPADKYVYPRGFQENKRYESYHS
QNVYQRVSLNAPMENAMSPDTFENSENMPFYHQSNTFTRSFFSNTFGRSGEQRRFGQGPFWGQEKGHSFWSDFHRSRKSFSSSDRDFEMISMEANSVSAIHGHNV
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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 (0) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top