Evidence Details for SKAP1

View Evidences	View Variants	View Annotations

Basic Information Top

Gene Symbol:	SKAP1 ( SCAP1,SKAP55 )
Gene Full Name:	src kinase associated phosphoprotein 1
Band:	17q21.32
Quick Links	Entrez ID:8631; OMIM: 604969; Uniprot ID:SKAP1_HUMAN; ENSEMBL ID: ENSG00000141293; HGNC ID: 15605
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>SKAP1|8631|nucleotide
ATGCAGGCCGCCGCCCTCCCTGAGGAGATCCGTTGGCTCCTGGAAGATGCTGAAGAGTTTCTGGCAGAAGGTTTGCGGAATGAGAACCTCAGCGCTGTTGCAAGG
GATCACAGAGACCATATTCTACGGGGCTTTCAGCAAATCAAAGCCAGGTACTATTGGGATTTTCAGCCCCAAGGGGGAGACATTGGACAGGACAGCTCTGATGAT
AATCACAGCGGGACTCTTGGCCTGTCCCTCACATCCGATGCACCCTTTTTGTCAGATTATCAGGATGAGGGAATGGAAGACATCGTAAAAGGAGCTCAAGAACTT
GATAACGTAATCAAGCAAGGATACTTGGAGAAGAAAAGCAAAGATCATAGTTTCTTTGGATCGGAGTGGCAGAAGCGATGGTGTGTTGTCAGCAGAGGTCTCTTC
TACTACTATGCTAATGAGAAGAGCAAGCAGCCCAAAGGGACCTTCCTCATTAAGGGCTACGGTGTACGGATGGCCCCCCACCTGCGAAGAGATTCCAAGAAAGAA
TCCTGCTTTGAACTGACCTCCCAGGATAGGCGCAGCTATGAGTTTACAGCTACTAGTCCAGCAGAAGCCAGAGACTGGGTGGATCAAATAAGTTTCTTGTTAAAG
GATCTGAGCTCCTTAACCATTCCATATGAAGAGGATGAGGAGGAAGAAGAAAAAGAAGAGACATATGATGATATTGATGGTTTTGACTCCCCAAGTTGTGGTTCC
CAGTGCAGACCCACTATCTTGCCTGGGAGTGTGGGGATAAAAGAGCCTACAGAGGAGAAAGAAGAAGAAGATATTTATGAAGTCTTGCCAGATGAAGAGCATGAT
CTAGAAGAGGATGAGAGTGGCACTCGACGAAAAGGAGACTATGCCAGTTACTACCAGGGCCTATGGGATTGCCATGGTGACCAGCCAGATGAACTGTCCTTCCAA
CGGGGTGACCTCATCCGTATTCTGAGCAAGGAGTATAACATGTATGGCTGGTGGGTGGGAGAACTGAACAGCCTCGTTGGGATTGTTCCAAAGGAGTATCTCACC
ACTGCCTTTGAAGTGGAAGAAAGATGA
Show »

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 (2)	0 (1)	0 (0)	1 (1)	0 (0)	0 (0)	0 (0)	0 (1)	0 (0)	2 (5)

Syndromic Autism Gene Top

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 2

Reference	Stage	Platform	#Families	Affecteds						Result
Reference	Stage	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Salyakina, 2010_2	Replication	Illumina HumanHap 550K BeadChip	110	- (-)			AS	- (3-21)	- >70
Salyakina, 2010_1	Discovery	Illumina HumanHap 550K BeadChip	124	- (-)			AS	- (3-21)	- >70

Case Control Based Association Studies: 0

Reference	Stage	Platform	ASD Cases						Normal Controls		Result
Reference	Stage	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
No Evidence.

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Levy, 2011	Simons Simplex Collection	aCGH	-	-	ASD	915	915	-	-	-	-	-

Linkage Studies Top

AutismKB 2.0

Evidence Details for SKAP1