AutismKB 2.0

Evidence Details for DZIP1L


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Basic Information Top
Gene Symbol:DZIP1L ( DZIP2,FLJ32844 )
Gene Full Name: DAZ interacting protein 1-like
Band: 3q22.3
Quick LinksEntrez ID:199221; OMIM: NA; Uniprot ID:DZI1L_HUMAN; ENSEMBL ID: ENSG00000158163; HGNC ID: 26551
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DZIP1L|199221|nucleotide
ATGCAGTCCCCAGCTGCCACTGCTGAGGGCCTCAGTGGCCCCCTCTTTGGGGCCTACACGTTCCCCACCTTCAAGTTTCAGCCTCGCCATGATAGCATGGACTGG
AGACGCATTAGCACCCTGGATGTAGACCGCGTGGCCCGGGAACTGGATGTGGCCACTCTGCAGGAGAATATTGCTGGCATCACCTTCTGCAACTTGGACCGGGAG
GTGTGCAGCCGCTGTGGGCAGCCTGTGGACCCGGCACTGCTCAAGGTGCTGCGCCTGGCGCAGCTCATCATTGAGTACCTGCTGCACTGCCAGGATTGCCTGAGT
GCCAGTGTTGCCCAGCTGGAGGCACGGCTGCAGACCAGCCTGGGCCAGCAGCAGCGTGGTCAGCAGGAGCTGGGACGCCAGGCTGACGAGCTCAAGGGTGTGCGG
GAGGAGAGCCGCCGGCGTCGCAAGATGATCAGCACCCTGCAGCAGCTGCTAATGCAGACAGGCACCCACAGCTACCACACGTGCCACCTGTGTGACAAGACATTC
ATGAATGCCACCTTTCTCCGGGGCCACATCCAGCGCAGGCATGCAGGCGTGGCAGAAGGTGGAAAACAGAAGAAACAGGAACAGCCAGTGGAAGAGGTGTTAGAA
GAGCTACGGGCCAAGCTAAAGTGGACCCAAGGGGAGCTGGAAGCCCAGAGGGAGGCGGAGAGGCAGCGGCAGCTCCAGGAAGCAGAGCTCATTCATCAGAGGGAA
ATAGAAGCTAAGAAAGAATTTGATAAATGGAAAGAGCAAGAGTGGACCAAACTTTATGGGGAAATAGATAAACTAAAAAAATTATTTTGGGATGAATTTAAAAAT
GTCGCCAAGCAGAACTCTACACTAGAAGAGAAACTGCGGGCACTGCAGTCCCACAGTGTGATGGAGTCCAAGCTGGGATCACTGCGAGATGAGGAGTCAGAGGAG
TGGCTTCGGCAGGCACGGGAGCTTCAGGCCCTGAGAGAGAAGACAGAAATTCAGAAAACGGAGTGGAAAAGAAAAGTGAAGGAACTGCATGAAGAGCACATGGCT
GAGAAGAAAGAGCTACAGGAGGAGAACCAGAGGCTCCAGGCCTCCCTGTCTCAGGATCAGAAGAAGGCAGCTGCCCAGTCCCAGTGCCAGATCAGCACCCTCCGT
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>DZIP1L|199221|protein
MQSPAATAEGLSGPLFGAYTFPTFKFQPRHDSMDWRRISTLDVDRVARELDVATLQENIAGITFCNLDREVCSRCGQPVDPALLKVLRLAQLIIEYLLHCQDCLS
ASVAQLEARLQTSLGQQQRGQQELGRQADELKGVREESRRRRKMISTLQQLLMQTGTHSYHTCHLCDKTFMNATFLRGHIQRRHAGVAEGGKQKKQEQPVEEVLE
ELRAKLKWTQGELEAQREAERQRQLQEAELIHQREIEAKKEFDKWKEQEWTKLYGEIDKLKKLFWDEFKNVAKQNSTLEEKLRALQSHSVMESKLGSLRDEESEE
WLRQARELQALREKTEIQKTEWKRKVKELHEEHMAEKKELQEENQRLQASLSQDQKKAAAQSQCQISTLRAQLQEQARIIASQEEMIQSLSLRKVEGIHKVPKAV
DTEEDSPEEEMEDSQDEQHKVLAALRRNPTLLKHFRPILEDTLEEKLESMGIRKDAKGISIQTLRHLESLLRVQREQKARKFSEFLSLRGKLVKEVTSRAKERQE
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018