Annotation Detail for DERL3

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Basic Information Top

Gene Symbol:	DERL3 ( C22orf14,IZP6,LLN2,MGC71803,derlin-3 )
Gene Full Name:	Der1-like domain family, member 3
Band:	22q11.23
Quick Links	Entrez ID:91319; OMIM: 610305; Uniprot ID:DERL3_HUMAN; ENSEMBL ID: ENSG00000099958; HGNC ID: 14236
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:0 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:5 results

No data

Location(AA)	Modification	Resource
17	O-linked	HMM predict
27	O-linked	HMM predict
136	Phosphoserine(CDC2)	HMM predict
218	Phosphotyrosine(EGFR)	HMM predict
218	Phosphotyrosine	HMM predict

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

RefSeq ID: NM_001002862
Location:chr22 22506691-22511200
strand:-

Upstream the gene:11 results
Downstream the gene:0 results
Inside the gene:1 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
ER	Breast-Cancer	GSE22609	22518448	22519014	566	7531
Rb	Growing	GSE19898	22511187	22511577	390	182
Rb	Quiescent	GSE19898	22511146	22511680	534	213
Rb	Senescent	GSE19898	22511012	22511705	693	158
Rb	shRbSenescence	GSE19898	22511247	22511593	346	220
hScc1	Bcell	GSE12603	22510995	22511667	672	131
p130	Quiescent	GSE19898	22511227	22511664	437	245
p130	Senescent	GSE19898	22511022	22511608	586	115
p130	shRbQuiescent	GSE19898	22511173	22511738	565	255
p130	shRbQuiescent	GSE19898	22516582	22516869	287	5525
p130	shRbSenescent	GSE19898	22511193	22511672	479	232

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	22509773	22509917	144	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
17249	EST		chr22	22504434	22504743	161	mRNA	DERL3	chr22	22501245	22505755	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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