AutismKB 2.0

Evidence Details for IQGAP2


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Basic Information Top
Gene Symbol:IQGAP2 ( - )
Gene Full Name: IQ motif containing GTPase activating protein 2
Band: 5q13.3
Quick LinksEntrez ID:10788; OMIM: 605401; Uniprot ID:IQGA2_HUMAN; ENSEMBL ID: ENSG00000145703; HGNC ID: 6111
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>IQGAP2|10788|nucleotide
ATGCCACACGAAGAGCTGCCGTCGCTGCAGAGACCCCGCTATGGCTCTATTGTGGACGATGAAAGGCTCTCTGCAGAGGAGATGGATGAGAGGAGGCGGCAGAAC
ATTGCTTATGAATATCTGTGCCACTTAGAGGAAGCCAAAAGGTGGATGGAAGTTTGCTTAGTTGAAGAATTGCCACCAACCACTGAATTGGAAGAAGGGCTCCGG
AATGGAGTTTACCTTGCAAAGTTAGCCAAGTTCTTTGCCCCGAAAATGGTATCAGAGAAAAAGATCTATGATGTGGAACAAACACGTTATAAGAAGTCTGGCCTT
CATTTTCGACACACAGATAATACCGTCCAGTGGTTAAGAGCGATGGAGTCTATTGGTCTACCCAAGATATTTTATCCAGAAACAACAGATGTCTATGATCGGAAA
AACATACCAAGAATGATATATTGCATTCACGCACTGAGTTTGTATCTGTTCAAACTAGGAATAGCACCCCAGATCCAGGATTTGTTGGGCAAAGTAGACTTCACA
GAGGAGGAAATCAGTAATATGAGAAAAGAACTTGAGAAATATGGAATACAGATGCCATCTTTCAGCAAAATAGGTGGTATTCTGGCCAATGAACTGTCCGTGGAT
GAAGCTGCATTACATGCTGCAGTTATAGCCATTAATGAAGCAGTTGAAAAAGGAATAGCAGAGCAAACCGTTGTAACACTAAGAAACCCAAATGCGGTTTTAACT
TTAGTGGATGACAACCTTGCACCAGAATATCAGAAAGAACTCTGGGATGCCAAAAAGAAAAAAGAGGAAAATGCAAGACTGAAGAATAGCTGTATTTCAGAAGAA
GAAAGAGATGCTTATGAAGAACTGCTGACACAAGCAGAAATCCAAGGCAATATTAATAAAGTCAACAGGCAGGCTGCAGTGGACCATATCAATGCTGTCATTCCG
GAAGGTGACCCCGAGAATACGCTGCTTGCACTGAAGAAACCAGAGGCCCAGCTGCCTGCTGTTTATCCCTTTGCTGCTGCCATGTATCAGAACGAACTTTTCAAC
CTCCAGAAACAGAACACCATGAACTACTTGGCCCACGAGGAGCTTTTGATTGCTGTGGAAATGTTGTCTGCTGTTGCTTTACTAAACCAGGCCTTGGAAAGCAAC
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>IQGAP2|10788|protein
MPHEELPSLQRPRYGSIVDDERLSAEEMDERRRQNIAYEYLCHLEEAKRWMEVCLVEELPPTTELEEGLRNGVYLAKLAKFFAPKMVSEKKIYDVEQTRYKKSGL
HFRHTDNTVQWLRAMESIGLPKIFYPETTDVYDRKNIPRMIYCIHALSLYLFKLGIAPQIQDLLGKVDFTEEEISNMRKELEKYGIQMPSFSKIGGILANELSVD
EAALHAAVIAINEAVEKGIAEQTVVTLRNPNAVLTLVDDNLAPEYQKELWDAKKKKEENARLKNSCISEEERDAYEELLTQAEIQGNINKVNRQAAVDHINAVIP
EGDPENTLLALKKPEAQLPAVYPFAAAMYQNELFNLQKQNTMNYLAHEELLIAVEMLSAVALLNQALESNDLVSVQNQLRSPAIGLNNLDKAYVERYANTLLSVK
LEVLSQGQDNLSWNEIQNCIDMVNAQIQEENDRVVAVGYINEAIDEGNPLRTLETLLLPTANISDVDPAHAQHYQDVLYHAKSQKLGDSESVSKVLWLDEIQQAV
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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (1) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (1) 0 (0) 0 (5)
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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top