AutismKB 2.0

Evidence Details for KALRN


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Basic Information Top
Gene Symbol:KALRN ( ARHGEF24,DUET,DUO,FLJ12332,FLJ16443,FLJ18196,FLJ18623,HAPIP,TRAD )
Gene Full Name: kalirin, RhoGEF kinase
Band: 3q21.1-q21.2
Quick LinksEntrez ID:8997; OMIM: 604605; Uniprot ID:KALRN_HUMAN; ENSEMBL ID: ENSG00000160145; HGNC ID: 4814
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KALRN|8997|nucleotide
ATGACGGACCGCTTCTGGGACCAGTGGTATCTCTGGTATCTCCGCTTGCTCCGGCTGCTGGATCGAGGGTCTTTTCGGAATGATGGTTTGAAAGCTTCTGATGTC
CTTCCTATCCTAAAGGAAAAGGTGGCCTTCGTGTCTGGGGGTCGTGATAAGCGAGGCGGACCCATCCTGACCTTCCCTGCTCGCAGCAATCATGACAGAATAAGA
CAGGAAGACCTGCGGAAACTCGTGACGTATTTGGCCAGCGTGCCAAGTGAGGACGTGTGCAAACGTGGCTTCACTGTCATCATCGACATGCGGGGCTCCAAGTGG
GACCTCATCAAGCCCCTCCTCAAAACGCTGCAGGAAGCCTTTCCAGCTGAGATCCATGTGGCCCTCATCATTAAACCCGACAACTTCTGGCAGAAACAGAAGACC
AACTTTGGCAGCTCCAAATTCATCTTTGAGACGAGCATGGTATCTGTGGAGGGCCTCACAAAGCTGGTGGACCCCTCCCAGCTGACGGAGGAGTTTGATGGCTCC
CTGGACTACAACCATGAGGAGTGGATCGAACTGCGGCTCTCCCTGGAGGAGTTCTTCAACAGCGCCGTGCACCTGCTCTCGCGCCTCGAGGACCTCCAGGAGATG
CTAGCCCGGAAGGAGTTTCCTGTGGATGTGGAGGGCTCTCGGCGGCTCATTGACGAACACACACAGCTCAAGAAAAAGGTGCTGAAGGCCCCTGTGGAGGAGCTG
GACCGGGAGGGGCAGCGGCTGCTGCAGTGCATCCGCTGCAGCGACGGCTTCTCAGGACGCAACTGCATCCCGGGCAGTGCTGACTTCCAGAGCCTGGTGCCCAAG
ATCACCAGTCTCCTGGACAAGCTGCACTCCACCCGGCAGCACCTGCACCAGATGTGGCATGTGCGCAAGCTCAAGCTGGACCAGTGCTTTCAGCTGCGGCTCTTC
GAGCAGGATGCTGAGAAGATGTTTGACTGGATAAGCCACAACAAGGAGTTATTCCTCCAGAGCCACACGGAGATCGGAGTCAGCTACCAGTACGCCCTTGACCTC
CAGACGCAGCACAATCACTTTGCCATGAACTCCATGAATGCCTATGTCAACATCAACCGCATCATGTCCGTGGCTTCCCGCCTCTCTGAGGCCGGTCATTATGCC
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>KALRN|8997|protein
MTDRFWDQWYLWYLRLLRLLDRGSFRNDGLKASDVLPILKEKVAFVSGGRDKRGGPILTFPARSNHDRIRQEDLRKLVTYLASVPSEDVCKRGFTVIIDMRGSKW
DLIKPLLKTLQEAFPAEIHVALIIKPDNFWQKQKTNFGSSKFIFETSMVSVEGLTKLVDPSQLTEEFDGSLDYNHEEWIELRLSLEEFFNSAVHLLSRLEDLQEM
LARKEFPVDVEGSRRLIDEHTQLKKKVLKAPVEELDREGQRLLQCIRCSDGFSGRNCIPGSADFQSLVPKITSLLDKLHSTRQHLHQMWHVRKLKLDQCFQLRLF
EQDAEKMFDWISHNKELFLQSHTEIGVSYQYALDLQTQHNHFAMNSMNAYVNINRIMSVASRLSEAGHYASQQIKQISTQLDQEWKSFAAALDERSTILAMSAVF
HQKAEQFLSGVDAWCKMCSEGGLPSEMQDLELAIHHHQTLYEQVTQAYTEVSQDGKALLDVLQRPLSPGNSESLTATANYSKAVHQVLDVVHEVLHHQRRLESIW
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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 (0) 0 (0) 0 (0) 1 (1) 0 (2) 0 (0) 0 (0) 0 (0) 1 (4)
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
Linkage Studies Top