Annotation Detail for CYB5R3

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Basic Information Top

Gene Symbol:	CYB5R3 ( B5R,DIA1 )
Gene Full Name:	cytochrome b5 reductase 3
Band:	22q13.2
Quick Links	Entrez ID:1727; OMIM: 613213; Uniprot ID:NB5R3_HUMAN; ENSEMBL ID: ENSG00000100243; HGNC ID: 2873
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:4 results
Experimental PTM Sites from dbPTM:3 results
Predicted PTM Sites by profile HMM from dbPTM:5 results

Location(AA)	Modification
42	N6-acetyllysine.
43	Phosphotyrosine.
120	N6-acetyllysine (By similarity).
130	Phosphotyrosine (By similarity).

Location(AA)	Modification	Resource
31	Phosphothreonine(PKA)	HMM predict
95	Phosphothreonine(MAPK)	HMM predict
99	Phosphoserine(CK2)	HMM predict
171	Phosphothreonine(Jak)	HMM predict
210	N-linked	HMM predict

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

RefSeq ID: NM_000398
Location:chr22 41344764-41375348
strand:-

Upstream the gene:17 results
Downstream the gene:0 results
Inside the gene:2 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	41388009	41388299	290	12806
CTCF	CD4	SISSRdata	41388009	41388299	290	12806
CTCF	Jurkat	GSE12889	41387873	41388323	450	12750
CTCF	G2	GSE9613	41387908	41388227	319	12719
NFkBII	GM12878	GSE19485	41390630	41392332	1702	16133
PHF8	Hs68minusFBS	GSE20725	41374588	41376295	1707	93
Rb	Growing	GSE19898	41375437	41375631	194	186
Rb	Quiescent	GSE19898	41388101	41388316	215	12860
Rb	Senescent	GSE19898	41388005	41388195	190	12752
hScc1	Bcell	GSE12603	41387908	41388732	824	12972
hScc1	Bcell	GSE12603	41389893	41390141	248	14669
hScc1	CdLS	GSE12603	41387908	41388264	356	12738
hScc1	G2	GSE9613	41387908	41388776	868	12994
p130	Quiescent	GSE19898	41375376	41375739	363	209
p130	Senescent	GSE19898	41375430	41375840	410	287
p130	shRbQuiescent	GSE19898	41375448	41376101	653	426
p130	shRbSenescent	GSE19898	41375433	41375835	402	286

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
H3ac	HepG2	E	41373854	41374154	300	0
PHF8	Hs68plusFBS	GSE20725	41373875	41376185	2310	0

Validated miRNA targets

miR Walk:3 results
Tarbase V5.0:0 results

Micro RNA Name	Stem Loop Name	The chromosome that miRNA located	Publication
hsa-let-7a	hsa-let-7a-1	9	21386827
hsa-let-7a	hsa-let-7a-2	11	21386827
hsa-let-7a	hsa-let-7a-3	22	21386827

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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