AutismKB 2.0

Evidence Details for LEPREL1


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Basic Information Top
Gene Symbol:LEPREL1 ( FLJ10718,MLAT4,P3H2 )
Gene Full Name: leprecan-like 1
Band: 3q28
Quick LinksEntrez ID:55214; OMIM: 610341; Uniprot ID:P3H2_HUMAN; ENSEMBL ID: ENSG00000090530; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LEPREL1|55214|nucleotide
ATGGAAATGCAGCAGAACATTGAGAATTACAGGGCGACAGCTGGTGTTGAAGCATTGCAGTTGGTAGACAGAGAAGCCAAGCCACACATGGAGAGTTACAATGCA
GGAGTTAAACATTATGAGGCTGATGACTTTGAGATGGCTATCAGGCACTTCGAACAAGCCTTAAGAGAATATTTCGTTGAAGATACAGAATGCCGGACCCTATGT
GAGGGGCCTCAGAGATTTGAAGAATATGAGTATTTAGGGTATAAGGCTGGTCTGTATGAAGCTATTGCAGATCACTACATGCAGGTGCTTGTTTGTCAGCATGAA
TGTGTGAGGGAACTTGCCACCCGCCCTGGCCGCCTCTCTCCCATCGAGAATTTTCTTCCTCTGCACTATGATTACCTACAGTTTGCCTACTATCGAGTTGGTGAG
TATGTGAAAGCCCTGGAGTGTGCCAAAGCCTATCTTCTATGCCATCCAGATGATGAGGATGTCCTAGACAATGTGGATTACTATGAGAGTCTGCTGGATGATAGC
ATTGACCCGGCATCCATTGAGGCCAGAGAGGATTTAACAATGTTTGTGAAACGTCATAAGCTGGAGTCTGAGCTGATAAAATCAGCTGCAGAAGGTCTGGGGTTT
TCATACACTGAACCGAATTATTGGATCAGATATGGAGGACGACAGGATGAGAATCGGGTCCCTTCAGGAGTGAACGTAGAGGGAGCAGAAGTTCATGGATTCTCA
ATGGGAAAAAAGCTATCACCCAAGATAGATCGAGACCTAAGAGAAGGTGGTCCTCTACTCTATGAGAACATCACATTCGTCTACAACTCGGAGCAGCTGAACGGG
ACTCAGCGGGTTCTCCTGGATAACGTCCTGTCGGAAGAACAGTGCCGGGAGCTCCACAGCGTGGCCAGTGGAATCATGCTTGTTGGTGATGGATACAGAGGAAAA
ACTTCACCCCATACACCCAATGAAAAGTTTGAAGGTGCAACTGTCCTGAAAGCACTCAAATCTGGTTATGAAGGTCGAGTCCCACTGAAGAGCGCTCGTCTGTTT
TATGACATCAGCGAAAAGGCTCGAAGGATTGTAGAATCTTATTTTATGCTGAACTCAACTCTGTATTTTTCCTATACACACATGGTCTGCCGAACAGCCCTGTCT
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>LEPREL1|55214|protein
MEMQQNIENYRATAGVEALQLVDREAKPHMESYNAGVKHYEADDFEMAIRHFEQALREYFVEDTECRTLCEGPQRFEEYEYLGYKAGLYEAIADHYMQVLVCQHE
CVRELATRPGRLSPIENFLPLHYDYLQFAYYRVGEYVKALECAKAYLLCHPDDEDVLDNVDYYESLLDDSIDPASIEAREDLTMFVKRHKLESELIKSAAEGLGF
SYTEPNYWIRYGGRQDENRVPSGVNVEGAEVHGFSMGKKLSPKIDRDLREGGPLLYENITFVYNSEQLNGTQRVLLDNVLSEEQCRELHSVASGIMLVGDGYRGK
TSPHTPNEKFEGATVLKALKSGYEGRVPLKSARLFYDISEKARRIVESYFMLNSTLYFSYTHMVCRTALSGQQDRRNDLSHPIHADNCLLDPEANECWKEPPAYT
FRDYSALLYMNDDFEGGEFIFTEMDAKTVTASIKPKCGRMISFSSGGENPHGVKAVTKGKRCAVALWFTLDPLYRELERIQADEVIAILDQEQQGKHELNINPKD
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top