AutismKB 2.0

Evidence Details for EXTL1


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Basic Information Top
Gene Symbol:EXTL1 ( EXTL,MGC70794 )
Gene Full Name: exostoses (multiple)-like 1
Band: 1p36.11
Quick LinksEntrez ID:2134; OMIM: 601738; Uniprot ID:EXTL1_HUMAN; ENSEMBL ID: ENSG00000158008; HGNC ID: 3515
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EXTL1|2134|nucleotide
ATGCAGTCGTGGAGGAGAAGAAAGTCCCTGTGGCTGGCACTGTCAGCCTCCTGGCTCCTGCTTGTCCTGCTGGGAGGCTTCTCCCTTCTCCGCCTGGCATTGCCT
CCCAGACCTCGGCCCGGGGCTTCCCAAGGCTGGCCCCGCTGGCTGGATGCAGAGCTCCTGCAGAGCTTCTCCCAGCCTGGAGAGCTCCCAGAAGATGCCGTTTCA
CCTCCTCAAGCCCCTCATGGTGGCAGCTGCAACTGGGAATCTTGCTTTGATACCTCAAAGTGCAGGGGCGATGGCCTTAAGGTATTCGTGTACCCAGCGGTTGGA
ACCATCTCTGAGACTCATCGCAGGATCCTGGCTTCCATTGAGGGCTCTCGCTTCTACACATTCAGCCCTGCTGGGGCCTGCCTCCTCCTCCTCCTCAGCCTGGAC
GCCCAGACTGGAGAGTGCAGCTCAATGCCTCTGCAATGGAACAGGGGCAGGAACCATCTGGTCCTCCGTCTCCACCCGGCTCCCTGCCCCAGGACCTTCCAGCTG
GGACAGGCTATGGTGGCTGAGGCCAGCCCCACGGTGGACTCCTTCCGGCCCGGCTTTGATGTGGCCCTCCCTTTTCTCCCTGAAGCCCACCCGTTGCGAGGTGGG
GCTCCTGGCCAGCTGCGGCAACACAGCCCCCAGCCCGGGGTAGCCCTGCTAGCCCTGGAAGAGGAGAGGGGTGGGTGGCGCACAGCAGACACTGGCTCCTCTGCC
TGCCCCTGGGATGGGCGCTGTGAGCAAGACCCTGGACCTGGGCAGACCCAGCGCCAGGAGACGCTGCCCAATGCCACCTTCTGCCTCATCTCTGGCCACCGTCCC
GAGGCTGCCTCGCGCTTCCTCCAAGCCCTGCAGGCCGGCTGCATCCCAGTGCTTCTCAGCCCCCGCTGGGAGCTGCCCTTCTCCGAGGTCATCGACTGGACCAAG
GCAGCCATCGTAGCTGATGAGAGGCTCCCACTTCAGGTCCTGGCTGCCCTCCAGGAGATGTCCCCTGCACGGGTCCTCGCCCTGCGTCAGCAGACCCAGTTTCTA
TGGGATGCCTACTTCTCCTCAGTGGAGAAGGTCATCCATACCACTCTGGAGGTTATTCAGGACCGGATTTTTGGAACATCAGCTCACCCCTCACTGCTGTGGAAC
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>EXTL1|2134|protein
MQSWRRRKSLWLALSASWLLLVLLGGFSLLRLALPPRPRPGASQGWPRWLDAELLQSFSQPGELPEDAVSPPQAPHGGSCNWESCFDTSKCRGDGLKVFVYPAVG
TISETHRRILASIEGSRFYTFSPAGACLLLLLSLDAQTGECSSMPLQWNRGRNHLVLRLHPAPCPRTFQLGQAMVAEASPTVDSFRPGFDVALPFLPEAHPLRGG
APGQLRQHSPQPGVALLALEEERGGWRTADTGSSACPWDGRCEQDPGPGQTQRQETLPNATFCLISGHRPEAASRFLQALQAGCIPVLLSPRWELPFSEVIDWTK
AAIVADERLPLQVLAALQEMSPARVLALRQQTQFLWDAYFSSVEKVIHTTLEVIQDRIFGTSAHPSLLWNSPPGALLALSTFSTSPQDFPFYYLQQGSRPEGRFS
ALIWVGPPGQPPLKLIQAVAGSQHCAQILVLWSNERPLPSRWPETAVPLTVIDGHRKVSDRFYPYSTIRTDAILSLDARSSLSTSEVDFAFLVWQSFPERMVGFL
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top