Evidence Details for TBC1D30

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Basic Information Top

Gene Symbol:	TBC1D30 ( KIAA0984 )
Gene Full Name:	TBC1 domain family, member 30
Band:	12q14.3
Quick Links	Entrez ID:23329; OMIM: NA; Uniprot ID:B9A6M9_HUMAN; ENSEMBL ID: ENSG00000111490; HGNC ID: 29164
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>TBC1D30|23329|nucleotide
ATGCGGCAGGACAAGCTGACCGGGTCTCTGAGGCGCGGGGGGAGATGCCTGAAGCGGCAGGGCGGCGGCGTGGGCACCATCCTGAGCAATGTGCTCAAGAAGCGC
AGCTGCATTTCCCGGACCGCGCCCCGGCTGCTGTGCACCCTGGAGCCGGGAGTTGATACCAAGTTGAAATTCACTCTTGAGCCATCTTTAGGTCAAAATGGTTTT
CAGCAGTGGTACGATGCTCTCAAGGCAGTTGCCAGGCTATCCACAGGAATACCAAAGGAATGGAGGAGAAAGGTTTGGTTGACCTTGGCAGATCATTATTTGCAC
AGTATAGCCATTGACTGGGACAAAACCATGCGCTTCACTTTCAATGAAAGGAGTAATCCTGATGATGACTCCATGGGAATTCAGATAGTCAAGGACCTTCACCGC
ACAGGCTGTAGTTCTTACTGTGGCCAGGAGGCTGAGCAGGACAGGGTTGTGTTGAAGCGGGTGCTGCTGGCCTATGCCCGATGGAACAAAACTGTTGGGTACTGC
CAAGGCTTTAACATCCTGGCTGCACTAATTCTGGAAGTGATGGAAGGCAATGAAGGGGATGCCCTGAAAATTATGATTTACCTTATTGATAAGGTACTTCCCGAA
AGCTATTTCGTCAATAATCTCCGGGCATTGTCTGTGGATATGGCTGTCTTCAGAGACCTTTTAAGAATGAAGCTGCCGGAATTATCTCAGCACCTGGATACTCTT
CAGAGAACTGCAAACAAAGAAAGTGGAGGTGGATATGAGCCCCCACTTACAAATGTCTTCACGATGCAGTGGTTTCTGACTCTCTTTGCCACATGCCTCCCTAAT
CAGACCGTTTTAAAGATCTGGGATTCAGTCTTCTTTGAAGGTTCAGAAATCATCCTAAGGGTGTCGCTGGCTATCTGGGCAAAATTAGGAGAGCAGATAGAATGT
TGTGAAACAGCAGATGAATTCTACAGCACCATGGGGCGCCTTACCCAGGAGATGCTAGAGAATGATCTTCTGCAAAGCCATGAACTCATGCAGACTGTTTATTCC
ATGGCTCCGTTCCCTTTCCCACAATTGGCAGAGTTGAGGGAAAAATACACCTACAACATTACACCGTTCCCAGCCACAGTTAAACCCACCTCAGTTTCTGGACGA
CATAGTAAGGCCAGAGACAGTGATGAAGAGAATGACCCAGACGATGAGGATGCTGTCGTTAATGCAGTGGGGTGTCTTGGACCTTTTAGTGGGTTCCTGGCTCCT
GAACTGCAGAAGTACCAAAAACAAATTAAAGAGCCAAATGAGGAGCAGAGTCTGAGATCTAATAACATTGCAGAGCTGAGTCCAGGAGCAATCAATTCCTGTCGA
AGTGAATACCATGCAGCTTTTAACAGTATGATGATGGAACGCATGACCACAGATATCAATGCACTGAAGCGGCAGTACTCTCGAATTAAAAAGAAGCAACAGCAG
CAGGTTCATCAGGTGTACATCAGGGCAGACAAAGGGCCAGTGACCAGCATTCTCCCGTCTCAGGTAAACAGTTCTCCAGTTATAAACCACCTTCTTTTAGGAAAG
AAGATGAAAATGACTAACAGAGCTGCCAAGAATGCTGTCATCCACATCCCTGGTCACACAGGAGGGAAAATATCTCCTGTCCCCTACGAAGACCTTAAGACGAAG
CTCAACTCCCCGTGGCGAACTCACATCCGAGTCCACAAAAAGAACATGCCAAGGACCAAGAGTCATCCGGGCTGTGGGGACACCGTAGGGCTGATAGATGAGCAG
AACGAGGCCAGCAAGACCAATGGGCTGGGGGCAGCAGAGGCATTCCCCTCTGGTTGTACAGCGACAGCTGGGAGAGAAGGCAGCAGCCCTGAAGGCAGTACCAGG
AGGACGATCGAGGGGCAGTCTCCGGAGCCGGTGTTCGGAGATGCTGATGTGGATGTGTCTGCAGTTCAGGCGAAGTTGGGAGCCCTGGAACTGAACCAGAGGGAT
GCTGCAGCTGAAACTGAGCTCAGGGTGCACCCACCCTGCCAGCGGCACTGCCCAGAGCCGCCGAGTGCACCCGAAGAAAACAAAGCCACCAGCAAAGCTCCCCAA
GGCAGCAACTCAAAAACCCCCATCTTTAGCCCTTTTCCCAGCGTCAAGCCCCTGCGGAAATCTGCTACTGCCAGGAACTTGGGATTATATGGCCCTACAGAAAGA
ACCCCAACTGTGCACTTTCCTCAAATGAGTAGGAGCTTCAGCAAACCCGGCGGTGGAAACAGTGGCACTAAAAAACGATGA
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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 (0)	0 (0)	0 (0)	0 (0)	0 (0)	0 (2)	0 (0)	0 (0)	0 (0)	0 (2)

Syndromic Autism Gene Top

Genome-Wide Association Studies(By Ethnic Group) Top

Reference	Stage	Platform	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

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
No matched CNVs !

Linkage Studies Top

AutismKB 2.0

Evidence Details for TBC1D30