AutismKB 2.0

Evidence Details for DYNC1LI2


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Basic Information Top
Gene Symbol:DYNC1LI2 ( DNCLI2,LIC2 )
Gene Full Name: dynein, cytoplasmic 1, light intermediate chain 2
Band: 16q22.1
Quick LinksEntrez ID:1783; OMIM: 611406; Uniprot ID:DC1L2_HUMAN; ENSEMBL ID: ENSG00000135720; HGNC ID: 2966
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DYNC1LI2|1783|nucleotide
ATGGCGCCGGTGGGGGTGGAGAAGAAGCTGCTGCTAGGTCCCAACGGGCCCGCGGTGGCGGCCGCCGGCGACCTGACCAGTGAGGAGGAGGAAGGCCAGAGCCTA
TGGTCCTCCATTCTGAGCGAAGTGTCCACCCGCGCCAGGTCCAAGCTGCCGTCCGGCAAGAACATCCTGGTCTTCGGTGAAGATGGTTCTGGTAAAACAACCCTC
ATGACTAAACTACAAGGAGCTGAGCATGGCAAAAAAGGAAGAGGCCTAGAATATCTCTACCTCAGTGTCCATGATGAGGACCGAGATGATCACACGCGCTGCAAC
GTGTGGATTCTGGATGGAGACTTGTACCACAAAGGCCTGCTGAAATTTGCAGTTTCTGCTGAATCCTTGCCAGAGACCCTCGTCATTTTTGTTGCAGACATGTCT
AGACCTTGGACTGTGATGGAATCTCTGCAGAAATGGGCTAGTGTTTTACGTGAGCACATTGATAAAATGAAAATTCCACCAGAAAAAATGAGGGAGCTGGAACGG
AAGTTTGTGAAAGATTTTCAAGACTATATGGAACCTGAAGAAGGTTGTCAAGGTTCCCCACAGAGAAGAGGCCCTCTGACCTCAGGCTCCGATGAAGAAAATGTT
GCCCTGCCTCTGGGTGACAATGTGCTGACTCATAACCTGGGGATCCCGGTGTTGGTGGTGTGCACAAAGTGTGATGCGGTGAGTGTCCTGGAGAAGGAGCACGAT
TACAGGGATGAGCATTTGGACTTTATCCAGTCACACCTGCGGAGGTTCTGCCTTCAGTATGGAGCTGCCTTGATTTACACATCAGTGAAAGAAGAGAAAAACCTC
GACTTGTTGTATAAGTATATTGTTCATAAAACATACGGTTTCCACTTCACCACACCTGCCTTAGTTGTGGAAAAGGATGCCGTTTTTATACCTGCAGGCTGGGAC
AATGAAAAGAAAATAGCTATTTTACATGAAAATTTTACAACCGTGAAGCCGGAAGATGCATATGAAGACTTTATTGTGAAACCTCCCGTGAGAAAGCTGGTCCAC
GACAAAGAGTTGGCAGCAGAAGATGAGCAGGTGTTCCTAATGAAGCAACAGTCACTCCTTGCCAAGCAACCAGCCACTCCCACGAGAGCTTCTGAATCTCCTGCA
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>DYNC1LI2|1783|protein
MAPVGVEKKLLLGPNGPAVAAAGDLTSEEEEGQSLWSSILSEVSTRARSKLPSGKNILVFGEDGSGKTTLMTKLQGAEHGKKGRGLEYLYLSVHDEDRDDHTRCN
VWILDGDLYHKGLLKFAVSAESLPETLVIFVADMSRPWTVMESLQKWASVLREHIDKMKIPPEKMRELERKFVKDFQDYMEPEEGCQGSPQRRGPLTSGSDEENV
ALPLGDNVLTHNLGIPVLVVCTKCDAVSVLEKEHDYRDEHLDFIQSHLRRFCLQYGAALIYTSVKEEKNLDLLYKYIVHKTYGFHFTTPALVVEKDAVFIPAGWD
NEKKIAILHENFTTVKPEDAYEDFIVKPPVRKLVHDKELAAEDEQVFLMKQQSLLAKQPATPTRASESPARGPSGSPRTQGRGGPASVPSSSPGTSVKKPDPNIK
NNAASEGVLASFFNSLLSKKTGSPGSPGAGGVQSTAKKSGQKTVLSNVQEELDRMTRKPDSMVTNSSTENEA
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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) 1 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (2)
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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top