Annotation Detail for LRRC48

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Basic Information Top

Gene Symbol:	LRRC48 ( DKFZp586M1120 )
Gene Full Name:	leucine rich repeat containing 48
Band:	17p11.2
Quick Links	Entrez ID:83450; OMIM: NA; Uniprot ID:LRC48_HUMAN; ENSEMBL ID: ENSG00000171962; HGNC ID:
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
162	Phosphoserine(CK1)	HMM predict
169	Phosphoserine(CK2)	HMM predict
208	Phosphoserine(CAMK2)	HMM predict
245	N-linked	HMM predict
505	Sulfotyrosine	HMM predict

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

RefSeq ID: NM_031294
Location:chr17 17816923-17860896
strand:+

Upstream the gene:2 results
Downstream the gene:0 results
Inside the gene:14 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
HIF1	Hypo	HepG2	17816527	17817033	506	144
Sox2	hES	GSE18292	17816719	17816872	153	128

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CBP	T30-glioblastoma	GSE21026	17834896	17835479	583	0
CTCF	G2	GSE9613	17821170	17821399	229	0
CTCF	G2	GSE9613	17825486	17825696	210	0
CTCF	G2	GSE9613	17837554	17837731	177	0
CTCF	G2	GSE9613	17838154	17838737	583	0
CTCF	G2	GSE9613	17850764	17851122	358	0
P300	T30-glioblastoma	GSE21026	17834734	17835586	852	0
RARA	MCF7	GSE15244	17848341	17848632	291	0
RARG	MCF7	GSE15244	17848341	17848632	291	0
TFAP2C	MCF7	GSE21234	17834936	17835291	355	0
USF1	HepG2	E	17816493	17817385	892	0
USF1	HepG2	E	17817829	17819212	1383	0
USF2	HepG2	E	17816527	17817385	858	0
hScc1	Bcell	GSE12603	17850800	17851159	359	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
10728	mRNA	LRRC48	chr17	17816923	17860897	132	mRNA	ATPAF2	chr17	17859097	17883114	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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