Annotation Detail for CHTF18

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Basic Information Top

Gene Symbol:	CHTF18 ( C16orf41,C321D2.2,C321D2.3,C321D2.4,CHL12,Ctf18,RUVBL )
Gene Full Name:	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)
Band:	16p13.3
Quick Links	Entrez ID:63922; OMIM: 613201; Uniprot ID:CTF18_HUMAN; ENSEMBL ID: ENSG00000127586; HGNC ID: 18435
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:7 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:0 results

Location(AA)	Modification
63	Phosphoserine.
64	Phosphoserine.
73	Phosphoserine.
74	Phosphoserine.
225	Phosphoserine.
865	Phosphoserine.
871	Phosphoserine.

Validated transcription factor binding site by ChIP-Chip and ChIP-Seq

RefSeq ID: NM_022092
Location:chr16 778647-788072
strand:+

Upstream the gene:1 results
Downstream the gene:0 results
Inside the gene:12 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
Fos	K562	GSE19551	778208	778900	692	94

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	779091	779287	196	0
CTCF	G2	GSE9613	781207	781526	319	0
CTCF	G2	GSE9613	781823	782167	344	0
CTCF	G2	GSE9613	784995	785857	862	0
CTCF	G2	GSE9613	786438	786859	421	0
TFAP2C	MCF7	GSE21234	780669	781673	1004	0
TFAP2C	MCF7	GSE21234	785578	786224	646	0
hScc1	Bcell	GSE12603	781103	781426	323	0
hScc1	Bcell	GSE12603	785266	785806	540	0
hScc1	Bcell	GSE12603	786438	786922	484	0
p130	Quiescent	GSE19898	778591	778826	235	0
p130	shRbSenescent	GSE19898	778546	779008	462	0

Validated miRNA targets

Cis-Nats regulation

Cluster ID	Plue Type	Plus Gene Name	Plus Chromosome	Plus Start	Plus End	Overlap Length	Minus Type	Minus Gene Name	Minus Chromosome	Minus Star	Minus End	Type
9438	mRNA	CHTF18	chr16	778647	788073	31	mRNA	GNG13	chr16	788042	790700	Sense/Antisense (SA) pairs

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

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