Annotation Detail for PRPF40B

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Basic Information Top

Gene Symbol:	PRPF40B ( HYPC )
Gene Full Name:	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)
Band:	12q13.12
Quick Links	Entrez ID:25766; OMIM: NA; Uniprot ID:PR40B_HUMAN; ENSEMBL ID: ENSG00000110844; HGNC ID: 25031
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:3 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:0 results

Location(AA)	Modification
148	N6-acetyllysine.
563	N6-acetyllysine.
832	Phosphoserine.

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

RefSeq ID: NM_001031698
Location:chr12 48310593-48324715
strand:+

Upstream the gene:0 results
Downstream the gene:0 results
Inside the gene:15 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	48316948	48317326	378	0
CTCF	CD4	SISSRdata	48316948	48317326	378	0
CTCF	Jurkat	GSE12889	48317000	48317284	284	0
CTCF	G2	GSE9613	48311482	48311696	214	0
CTCF	G2	GSE9613	48313226	48313485	259	0
CTCF	G2	GSE9613	48313973	48314543	570	0
CTCF	G2	GSE9613	48315139	48315490	351	0
CTCF	G2	GSE9613	48316789	48317835	1046	0
CTCF	G2	GSE9613	48323811	48325196	1385	0
TFAP2C	MCF7	GSE21234	48322076	48323241	1165	0
hScc1	Bcell	GSE12603	48313973	48314241	268	0
hScc1	Bcell	GSE12603	48316789	48317548	759	0
hScc1	CdLS	GSE12603	48316815	48317584	769	0
hScc1	G2	GSE9613	48316754	48317611	857	0
hScc1	G2	GSE9613	48324237	48325113	876	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
5977	mRNA	HYPC	chr12	48303669	48324716	1368	mRNA	FMNL3	chr12	48317990	48387262	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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