AutismKB 2.0

Evidence Details for CRY1


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Basic Information Top
Gene Symbol:CRY1 ( PHLL1 )
Gene Full Name: cryptochrome 1 (photolyase-like)
Band: 12q23.3
Quick LinksEntrez ID:1407; OMIM: 601933; Uniprot ID:CRY1_HUMAN; ENSEMBL ID: ENSG00000008405; HGNC ID: 2384
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CRY1|1407|nucleotide
ATGGGGGTGAACGCCGTGCACTGGTTCCGAAAGGGGCTCCGGCTCCACGACAACCCCGCCCTGAAGGAGTGCATTCAGGGCGCCGACACCATCCGCTGCGTCTAC
ATCCTGGACCCCTGGTTCGCCGGCTCCTCCAATGTGGGCATCAACAGGTGGCGATTTTTGCTTCAGTGTCTTGAGGATCTTGATGCCAATCTACGAAAATTAAAC
TCCCGTCTGTTTGTGATTCGTGGACAACCAGCAGATGTGTTTCCCAGGCTTTTCAAGGAATGGAACATTACTAAACTTTCAATTGAGTATGATTCTGAGCCCTTT
GGAAAGGAACGAGACGCAGCTATTAAGAAACTGGCAACTGAAGCTGGAGTAGAAGTCATTGTAAGAATTTCACATACATTATATGACCTAGACAAGATCATAGAA
CTCAATGGTGGACAACCGCCTCTAACTTATAAAAGATTCCAGACTCTCATCAGCAAAATGGAACCACTAGAGATACCAGTAGAGACAATTACTTCAGAAGTGATA
GAAAAGTGCACAACTCCTCTGTCTGATGACCATGATGAGAAATATGGAGTCCCTTCACTGGAAGAGCTAGGTTTTGATACAGATGGCTTATCCTCTGCAGTGTGG
CCAGGTGGAGAAACTGAAGCACTTACTCGTTTGGAAAGGCATTTGGAAAGAAAAGCTTGGGTGGCAAATTTTGAAAGACCTCGAATGAATGCGAATTCTCTGCTT
GCAAGCCCTACTGGACTTAGTCCTTATCTCCGATTTGGTTGTTTGTCATGTCGACTGTTTTACTTCAAACTAACAGATCTCTACAAAAAGGTAAAGAAGAACAGT
TCCCCTCCCCTTTCCCTTTATGGGCAACTGTTATGGCGTGAATTTTTCTATACAGCAGCAACAAATAATCCACGCTTTGATAAAATGGAAGGAAACCCTATCTGT
GTTCAGATTCCTTGGGATAAAAATCCTGAGGCTTTAGCCAAATGGGCGGAAGGCCGGACAGGCTTTCCATGGATTGATGCCATCATGACACAGCTTCGTCAGGAG
GGTTGGATTCATCATCTAGCCAGGCATGCAGTTGCTTGCTTCCTGACACGAGGGGACCTGTGGATTAGTTGGGAAGAAGGAATGAAGGTATTTGAAGAATTATTG
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>CRY1|1407|protein
MGVNAVHWFRKGLRLHDNPALKECIQGADTIRCVYILDPWFAGSSNVGINRWRFLLQCLEDLDANLRKLNSRLFVIRGQPADVFPRLFKEWNITKLSIEYDSEPF
GKERDAAIKKLATEAGVEVIVRISHTLYDLDKIIELNGGQPPLTYKRFQTLISKMEPLEIPVETITSEVIEKCTTPLSDDHDEKYGVPSLEELGFDTDGLSSAVW
PGGETEALTRLERHLERKAWVANFERPRMNANSLLASPTGLSPYLRFGCLSCRLFYFKLTDLYKKVKKNSSPPLSLYGQLLWREFFYTAATNNPRFDKMEGNPIC
VQIPWDKNPEALAKWAEGRTGFPWIDAIMTQLRQEGWIHHLARHAVACFLTRGDLWISWEEGMKVFEELLLDADWSINAGSWMWLSCSSFFQQFFHCYCPVGFGR
RTDPNGDYIRRYLPVLRGFPAKYIYDPWNAPEGIQKVAKCLIGVNYPKPMVNHAEASRLNIERMKQIYQQLSRYRGLGLLASVPSNPNGNGGFMGYSAENIPGCS
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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 (1) 1 (1) 0 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (4)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Bailey, 1998 - microsatellite-based genomic screenPDD 99 - 99 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 0
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Ghahramani Seno, 2010_1 Unknown lymphoblastoid cell-line 20
(35.00%)
-AD 22
(13.64%)
1.25 Up 0.09
  • Platform: Illumina HumanRef-8_V3 gene expression arrays (San Diego, USA)
  • ProbeSet: ILMN_2202637
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: Generalized Estimating Equations (GEE)
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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