Annotation Detail for SMYD1

View Evidences	View Variants	View Annotations

Basic Information Top

Gene Symbol:	SMYD1 ( BOP,KMT3D,ZMYND18,ZMYND22 )
Gene Full Name:	SET and MYND domain containing 1
Band:	2p11.2
Quick Links	Entrez ID:150572; OMIM: 606846; Uniprot ID:SMYD1_HUMAN; ENSEMBL ID: ENSG00000115593; HGNC ID: 20986
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:13 results

No data

Location(AA)	Modification	Resource
39	Phosphotyrosine(SRC)	HMM predict
40	Phosphoserine(PKG)	HMM predict
52	S-palmitoyl	HMM predict
55	S-palmitoyl	HMM predict
211	N-linked	HMM predict
217	N-linked	HMM predict
243	Phosphoserine(CK2)	HMM predict
243	Phosphoserine(PKG)	HMM predict
276	S-palmitoyl	HMM predict
325	Phosphotyrosine(SRC)	HMM predict
381	Phosphotyrosine(INSR)	HMM predict
444	Phosphothreonine(PKC)	HMM predict
459	Phosphotyrosine(Syk)	HMM predict

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

RefSeq ID: NM_198274
Location:chr2 88148496-88194014
strand:+

Upstream the gene:0 results
Downstream the gene:1 results
Inside the gene:8 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	88195380	88195677	297	1514

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
ER	MCF7	GSE19013	88149442	88150186	744	0
Nanog	hES	GSE18292	88163437	88163751	314	0
Oct1	H2O2-Hela	GSE14283	88164040	88164066	26	0
Oct1	Hela	GSE14283	88150805	88150832	27	0
Oct1	Hela	GSE14283	88151856	88151890	34	0
Oct1	Hela	GSE14283	88164038	88164066	28	0
P300	T30-glioblastoma	GSE21026	88155303	88156054	751	0
Sox2	hES	GSE18292	88163506	88163736	230	0

Validated miRNA targets

miR Walk:4 results
Tarbase V5.0:0 results

Micro RNA Name	Stem Loop Name	The chromosome that miRNA located	Publication
hsa-miR-1	hsa-mir-1-2	18	19004760
hsa-miR-1	hsa-mir-1-1	20	19004760
hsa-miR-1	hsa-mir-1-2	18	19004760
hsa-miR-1	hsa-mir-1-1	20	19004760

Cis-Nats regulation

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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