AutismKB 2.0

Evidence Details for CDH17


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Basic Information Top
Gene Symbol:CDH17 ( CDH16,FLJ26931,HPT-1,HPT1,MGC138218,MGC142024 )
Gene Full Name: cadherin 17, LI cadherin (liver-intestine)
Band: 8q22.1
Quick LinksEntrez ID:1015; OMIM: 603017; Uniprot ID:CAD17_HUMAN; ENSEMBL ID: ENSG00000079112; HGNC ID: 1756
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CDH17|1015|nucleotide
ATGATACTTCAGGCCCATCTTCACTCCCTGTGTCTTCTTATGCTTTATTTGGCAACTGGATATGGCCAAGAGGGGAAGTTTAGTGGACCCCTGAAACCCATGACA
TTTTCTATTTATGAAGGCCAAGAACCGAGTCAAATTATATTCCAGTTTAAGGCCAATCCTCCTGCTGTGACTTTTGAACTAACTGGGGAGACAGACAACATATTT
GTGATAGAACGGGAGGGACTTCTGTATTACAACAGAGCCTTGGACAGGGAAACAAGATCTACTCACAATCTCCAGGTTGCAGCCCTGGACGCTAATGGAATTATA
GTGGAGGGTCCAGTCCCTATCACCATAAAAGTGAAGGACATCAACGACAATCGACCCACGTTTCTCCAGTCAAAGTACGAAGGCTCAGTAAGGCAGAACTCTCGC
CCAGGAAAGCCCTTCTTGTATGTCAATGCCACAGACCTGGATGATCCGGCCACTCCCAATGGCCAGCTTTATTACCAGATTGTCATCCAGCTTCCCATGATCAAC
AATGTCATGTACTTTCAGATCAACAACAAAACGGGAGCCATCTCTCTTACCCGAGAGGGATCTCAGGAATTGAATCCTGCTAAGAATCCTTCCTATAATCTGGTG
ATCTCAGTGAAGGACATGGGAGGCCAGAGTGAGAATTCCTTCAGTGATACCACATCTGTGGATATCATAGTGACAGAGAATATTTGGAAAGCACCAAAACCTGTG
GAGATGGTGGAAAACTCAACTGATCCTCACCCCATCAAAATCACTCAGGTGCGGTGGAATGATCCCGGTGCACAATATTCCTTAGTTGACAAAGAGAAGCTGCCA
AGATTCCCATTTTCAATTGACCAGGAAGGAGATATTTACGTGACTCAGCCCTTGGACCGAGAAGAAAAGGATGCATATGTTTTTTATGCAGTTGCAAAGGATGAG
TACGGAAAACCACTTTCATATCCGCTGGAAATTCATGTAAAAGTTAAAGATATTAATGATAATCCACCTACATGTCCGTCACCAGTAACCGTATTTGAGGTCCAG
GAGAATGAACGACTGGGTAACAGTATCGGGACCCTTACTGCACATGACAGGGATGAAGAAAATACTGCCAACAGTTTTCTAAACTACAGGATTGTGGAGCAAACT
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>CDH17|1015|protein
MILQAHLHSLCLLMLYLATGYGQEGKFSGPLKPMTFSIYEGQEPSQIIFQFKANPPAVTFELTGETDNIFVIEREGLLYYNRALDRETRSTHNLQVAALDANGII
VEGPVPITIKVKDINDNRPTFLQSKYEGSVRQNSRPGKPFLYVNATDLDDPATPNGQLYYQIVIQLPMINNVMYFQINNKTGAISLTREGSQELNPAKNPSYNLV
ISVKDMGGQSENSFSDTTSVDIIVTENIWKAPKPVEMVENSTDPHPIKITQVRWNDPGAQYSLVDKEKLPRFPFSIDQEGDIYVTQPLDREEKDAYVFYAVAKDE
YGKPLSYPLEIHVKVKDINDNPPTCPSPVTVFEVQENERLGNSIGTLTAHDRDEENTANSFLNYRIVEQTPKLPMDGLFLIQTYAGMLQLAKQSLKKQDTPQYNL
TIEVSDKDFKTLCFVQINVIDINDQIPIFEKSDYGNLTLAEDTNIGSTILTIQATDADEPFTGSSKILYHIIKGDSEGRLGVDTDPHTNTGYVIIKKPLDFETAA
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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 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 6 (2)
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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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