AutismKB 2.0

Evidence Details for ESPNL


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Basic Information Top
Gene Symbol:ESPNL ( FLJ42568,MGC99829 )
Gene Full Name: espin-like
Band: 2q37.3
Quick LinksEntrez ID:339768; OMIM: NA; Uniprot ID:ESPNL_HUMAN; ENSEMBL ID: ENSG00000144488; HGNC ID: 27937
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ESPNL|339768|nucleotide
ATGGAGAAGCAGCGGGCACTCGTGGCCGCCAAGGATGGGGATGTGGCGACGTTGGAGCGGCTGCTGGAGGCTGGCGCCCTGGGCCCGGGCATCACCGATGCTCTG
GGGGCCGGCCTGGTTCACCACGCCACCCGGGCTGGCCACCTGGACTGCGTCAAGTTCTTGGTGCAGCGGGCCCAGCTGCCCGGCAACCAGCGGGCCCACAACGGG
GCCACCCCAGCGCATGACGCCGCTGCCACGGGCAGCCTGGCCGAGCTGTGCTGGCTGGTCCGCGAGGGGGGCTGCGGTCTGCAGGACCAAGATGCCTCGGGCGTC
TCCCCGCTGCACCTGGCCGCCCGTTTTGGACACCCAGTGCTGGTGGAGTGGCTGCTCCACGAGGGCCACTCGGCCACGCTAGAGACCCGGGAGGGAGCCCGGCCG
CTGCACCACGCTGCCGTCAGTGGGGACCTGACCTGCCTCAAGCTCCTGACAGCCGCGCATGGCAGCAGCGTGAACCGGCGGACACGCAGTGGCGCCTCCCCACTC
TACCTGGCCTGCCAGGAGGGCCACCTGCACCTGGCCCAGTTCCTGGTGAAGGACTGTGGCGCTGACGTGCACCTTCGTGCTCTCGATGGCATGAGCGCCCTGCAC
GCTGCCGCCGCCCGTGGCCACTACTCCCTCGTCGTCTGGCTGGTCACATTCACCGACATCGGACTCACGGCACGGGACAATGAGGGGGCCACGGCCCTGCACTTT
GCAGCCCGAGGCGGCCACACGCCCATTCTAGACCGACTCCTGCTCATGGGTACCCCCATCCTGAGAGACTCCTGGGGTGGGACCCCCCTCCACGACGCAGCAGAG
AACGGGCAGATGGAGTGCTGCCAGACCCTAGTCTCCCACCACGTGGACCCCTCCCTGCGGGATGAAGATGGTTACACGGCGGCAGACCTGGCGGAGTACCATGGA
CACCGGGACTGCGCCCAGTACCTGCGGGAGGTGGCCCAGCCGGTGCCCCTGCTGATGACGCCCCCACCACCACCGTTCCCCCCACCTCCACTGTTGGCCACGAGG
CGCTCCCTGGAGGATGGAAGAAGAGGAGGCCCAGGGCCAGGGAACCCCAGCCCCATGTCCCTCAGCCCGGCCTGGCCTGGCCATCCTGACCAGCCTCTTCCCAGG
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>ESPNL|339768|protein
MEKQRALVAAKDGDVATLERLLEAGALGPGITDALGAGLVHHATRAGHLDCVKFLVQRAQLPGNQRAHNGATPAHDAAATGSLAELCWLVREGGCGLQDQDASGV
SPLHLAARFGHPVLVEWLLHEGHSATLETREGARPLHHAAVSGDLTCLKLLTAAHGSSVNRRTRSGASPLYLACQEGHLHLAQFLVKDCGADVHLRALDGMSALH
AAAARGHYSLVVWLVTFTDIGLTARDNEGATALHFAARGGHTPILDRLLLMGTPILRDSWGGTPLHDAAENGQMECCQTLVSHHVDPSLRDEDGYTAADLAEYHG
HRDCAQYLREVAQPVPLLMTPPPPPFPPPPLLATRRSLEDGRRGGPGPGNPSPMSLSPAWPGHPDQPLPREQMTSPAPPRIITSATADPEGTETALAGDTSDGLA
ALQLDGLPSGDIDGLVPTRDERGQPIPEWKRQVMVRKLQARLGAESSAEAQDNGGSSGPTEQAAWRYSQTHQAILGPFGELLTEDDLVYLEKQIADLQLRRRCQE
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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (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
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top