AutismKB 2.0

Evidence Details for SEZ6L


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Basic Information Top
Gene Symbol:SEZ6L ( - )
Gene Full Name: seizure related 6 homolog (mouse)-like
Band: 22q12.1
Quick LinksEntrez ID:23544; OMIM: 607021; Uniprot ID:SE6L1_HUMAN; ENSEMBL ID: ENSG00000100095; HGNC ID: 10763
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SEZ6L|23544|nucleotide
ATGCCCGCGGCCCGGCCGCCCGCCGCGGGACTCCGCGGGATCTCGCTGTTCCTCGCTCTGCTCCTGGGGAGCCCGGCGGCAGCGCTGGAGCGAGATGCTCTTCCC
GAGGGAGATGCTAGCCCTTTGGGTCCTTACCTCCTGCCCTCAGGAGCCCCGGAGAGAGGCAGTCCTGGCAAAGAGCACCCTGAAGAGAGAGTGGTAACAGCGCCC
CCCAGTTCCTCACAGTCGGCGGAAGTGCTGGGCGAGCTGGTGCTGGATGGGACCGCACCCTCTGCACATCACGACATCCCAGCCCTGTCACCGCTGCTTCCAGAG
GAGGCCCGCCCCAAGCACGCCTTGCCCCCCAAGAAGAAACTGCCTTCGCTCAAGCAGGTGAACTCTGCCAGGAAGCAGCTGAGGCCCAAGGCCACCTCCGCAGCC
ACTGTCCAAAGGGCAGGGTCCCAGCCAGCGTCCCAGGGCCTAGATCTCCTCTCCTCCTCCACGGAGAAGCCTGGCCCACCGGGGGACCCGGACCCCATCGTGGCC
TCCGAGGAGGCATCAGAAGTGCCCCTTTGGCTGGACCGAAAGGAGAGTGCGGTCCCTACAACACCCGCACCCCTGCAAATCTCCCCCTTCACTTCGCAGCCCTAT
GTGGCCCACACACTCCCCCAGAGGCCAGAACCCGGGGAGCCTGGGCCTGACATGGCCCAGGAGGCCCCCCAGGAGGACACCAGCCCCATGGCCCTGATGGACAAA
GGTGAGAATGAGCTGACTGGGTCAGCCTCAGAGGAGAGCCAGGAGACCACTACCTCCACCATTATCACCACCACGGTCATCACCACCGAGCAGGCACCAGCTCTC
TGCAGTGTGAGCTTCTCCAATCCTGAGGGGTACATTGACTCCAGCGACTACCCACTGCTGCCCCTCAACAACTTTCTGGAGTGCACATACAACGTGACAGTCTAC
ACTGGCTATGGGGTGGAGCTCCAGGTGAAGAGTGTGAACCTGTCCGATGGGGAACTGCTCTCCATCCGCGGGGTGGACGGCCCTACCCTGACCGTCCTGGCCAAC
CAGACACTCCTGGTGGAGGGGCAGGTAATCCGAAGCCCCACCAACACCATCTCCGTCTACTTCCGGACCTTCCAGGACGACGGCCTTGGGACCTTCCAGCTTCAC
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>SEZ6L|23544|protein
MPAARPPAAGLRGISLFLALLLGSPAAALERDALPEGDASPLGPYLLPSGAPERGSPGKEHPEERVVTAPPSSSQSAEVLGELVLDGTAPSAHHDIPALSPLLPE
EARPKHALPPKKKLPSLKQVNSARKQLRPKATSAATVQRAGSQPASQGLDLLSSSTEKPGPPGDPDPIVASEEASEVPLWLDRKESAVPTTPAPLQISPFTSQPY
VAHTLPQRPEPGEPGPDMAQEAPQEDTSPMALMDKGENELTGSASEESQETTTSTIITTTVITTEQAPALCSVSFSNPEGYIDSSDYPLLPLNNFLECTYNVTVY
TGYGVELQVKSVNLSDGELLSIRGVDGPTLTVLANQTLLVEGQVIRSPTNTISVYFRTFQDDGLGTFQLHYQAFMLSCNFPRRPDSGDVTVMDLHSGGVAHFHCH
LGYELQGAKMLTCINASKPHWSSQEPICSAPCGGAVHNATIGRVLSPSYPENTNGSQFCIWTIEAPEGQKLHLHFERLLLHDKDRMTVHSGQTNKSALLYDSLQT
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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)		ASD -
-		 -
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ #Subjects
(% Women)		 Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top