AutismKB 2.0

Evidence Details for ING3


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Basic Information Top
Gene Symbol:ING3 ( Eaf4,FLJ20089,ING2,MEAF4,p47ING3 )
Gene Full Name: inhibitor of growth family, member 3
Band: 7q31.31
Quick LinksEntrez ID:54556; OMIM: 607493; Uniprot ID:ING3_HUMAN; ENSEMBL ID: ENSG00000071243; HGNC ID: 14587
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ING3|54556|nucleotide
ATGTTGTACCTAGAAGACTATCTGGAAATGATTGAGCAGCTTCCTATGGATCTGCGGGACCGCTTCACGGAAATGCGCGAGATGGACCTGCAGGTGCAGAATGCA
ATGGATCAACTAGAACAAAGAGTCAGTGAATTCTTTATGAATGCAAAGAAAAATAAACCTGAGTGGAGGGAAGAGCAAATGGCATCCATCAAAAAAGACTACTAT
AAAGCTTTGGAAGATGCAGATGAGAAGGTTCAGTTGGCAAACCAGATATATGACTTGGTAGATCGACACTTGAGAAAGCTGGATCAGGAACTGGCTAAGTTTAAA
ATGGAGCTGGAAGCTGATAATGCTGGAATTACAGAAATATTAGAGAGGCGATCTTTGGAATTAGACACTCCTTCACAGCCAGTGAACAATCACCATGCTCATTCA
CATACTCCAGTGGAAAAAAGGAAATATAATCCAACTTCTCACCATACGACAACAGATCATATTCCTGAAAAGAAATTTAAATCTGAAGCTCTTCTATCCACCCTT
ACGTCAGATGCCTCTAAGGAAAATACACTAGGTTGTCGAAATAATAATTCCACAGCCTCTTCTAACAATGCCTACAATGTGAATTCCTCCCAACCTCTGGGATCC
TATAACATTGGCTCGTTATCTTCAGGAACTGGTGCAGGGGCAATTACCATGGCAGCTGCTCAAGCAGTTCAGGCTACAGCTCAGATGAAGGAGGGACGAAGAACA
TCAAGTTTAAAAGCCAGTTATGAAGCATTTAAGAATAATGACTTTCAGTTGGGAAAAGAATTTTCAATGGCCAGGGAAACAGTTGGCTATTCATCATCTTCGGCA
CTTATGACAACATTAACACAGAATGCCAGTTCATCAGCAGCCGACTCACGGAGTGGTCGAAAGAGCAAAAACAACAACAAGTCTTCAAGCCAGCAGTCATCATCT
TCCTCCTCCTCTTCTTCCTTATCATCGTGTTCTTCATCATCAACTGTTGTACAAGAAATCTCTCAACAAACAACTGTAGTGCCAGAATCTGATTCAAATAGTCAG
GTTGATTGGACTTACGACCCAAATGAACCTCGATACTGCATTTGTAATCAGGTATCTTATGGTGAGATGGTGGGATGTGATAACCAAGATTGCCCTATAGAATGG
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>ING3|54556|protein
MLYLEDYLEMIEQLPMDLRDRFTEMREMDLQVQNAMDQLEQRVSEFFMNAKKNKPEWREEQMASIKKDYYKALEDADEKVQLANQIYDLVDRHLRKLDQELAKFK
MELEADNAGITEILERRSLELDTPSQPVNNHHAHSHTPVEKRKYNPTSHHTTTDHIPEKKFKSEALLSTLTSDASKENTLGCRNNNSTASSNNAYNVNSSQPLGS
YNIGSLSSGTGAGAITMAAAQAVQATAQMKEGRRTSSLKASYEAFKNNDFQLGKEFSMARETVGYSSSSALMTTLTQNASSSAADSRSGRKSKNNNKSSSQQSSS
SSSSSSLSSCSSSSTVVQEISQQTTVVPESDSNSQVDWTYDPNEPRYCICNQVSYGEMVGCDNQDCPIEWFHYGCVGLTEAPKGKWYCPQCTAAMKRRGSRHK

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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 (1) 0 (3) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (6)
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
Maestrini, 2009_2 Discovery GoldenGate assay (Illumina, San Diego, CA, USA) 127 127
(-)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Okamoto, 2011 Japan -ASD - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top