Annotation Detail for DGCR8

View Evidences	View Variants	View Annotations

Basic Information Top

Gene Symbol:	DGCR8 ( C22orf12,DGCRK6,Gy1,pasha )
Gene Full Name:	DiGeorge syndrome critical region gene 8
Band:	22q11.21
Quick Links	Entrez ID:54487; OMIM: 609030; Uniprot ID:DGCR8_HUMAN; ENSEMBL ID: ENSG00000128191; HGNC ID: 2847
Relate to Another Database:	SFARIGene; denovo-db

General

Expression

Regulation

Pathways, Diseases and Drugs

PTM

TF binding site

miRNA targets

Cis-NATs

Post Translation Modification

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PTM Sites from Uniprot:6 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:17 results

Location(AA)	Modification
92	Phosphoserine.
95	Phosphoserine.
109	Phosphoserine.
271	Phosphoserine.
275	Phosphoserine.
377	Phosphoserine.

Location(AA)	Modification	Resource
6	Phosphoserine	HMM predict
8	O-linked	HMM predict
35	Phosphoserine(IKK)	HMM predict
90	N-linked	HMM predict
130	Phosphoserine(CK1)	HMM predict
153	Phosphoserine(MAPK)	HMM predict
263	Phosphothreonine(PKC)	HMM predict
275	Phosphoserine(ATM)	HMM predict
352	S-palmitoyl	HMM predict
367	Phosphoserine(IKK)	HMM predict
377	Phosphoserine(CDK)	HMM predict
377	Phosphoserine(CDC2)	HMM predict
537	N-linked	HMM predict
572	Phosphothreonine(PKC)	HMM predict
584	Phosphothreonine(PKC)	HMM predict
710	Phosphothreonine(PKC)	HMM predict
749	Phosphothreonine(PKC)	HMM predict

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

RefSeq ID: NM_022720
Location:chr22 18447833-18479397
strand:+

Upstream the gene:10 results
Downstream the gene:0 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	18447277	18447850	573	270
Myc	hES	GSE17917	18447295	18447693	398	340
PHF8	Hs68minusFBS	GSE20725	18447137	18447937	800	297
Rb	Senescent	GSE19898	18447221	18447633	412	407
hScc1	Bcell	GSE12603	18447277	18447885	608	253
hScc1	CdLS	GSE12603	18447312	18447885	573	235
p130	Quiescent	GSE19898	18447215	18447604	389	424
p130	Senescent	GSE19898	18447193	18447671	478	402
p130	shRbQuiescent	GSE19898	18447278	18447656	378	367
p130	shRbSenescent	GSE19898	18447268	18447745	477	327

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length
CTCF	G2	GSE9613	18478660	18479108	448
H3ac	HepG2	E	18448185	18449542	1357
H3ac	HepG2	E	18450391	18452260	1869
IGF1R	DFB	GSE23792	18461493	18461933	440
PolII	HeLa	GSE12783	18446557	18449297	2740
VDR	GM10861-stim	GSE22484	18476176	18481655	5479
hScc1	Bcell	GSE12603	18469114	18469293	179
hScc1	CdLS	GSE12603	18478660	18479191	531

Validated miRNA targets

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miR Walk:263 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	20485546
hsa-let-7a	hsa-let-7a-2	11	20485546
hsa-let-7a	hsa-let-7a-3	22	20485546
hsa-let-7a	hsa-let-7a-1	9	20116252
hsa-let-7a	hsa-let-7a-2	11	20116252
hsa-let-7a	hsa-let-7a-3	22	20116252
hsa-let-7a	hsa-let-7a-1	9	20054295
hsa-let-7a	hsa-let-7a-2	11	20054295
hsa-let-7a	hsa-let-7a-3	22	20054295
hsa-let-7a	hsa-let-7a-1	9	16906129
hsa-let-7a	hsa-let-7a-2	11	16906129
hsa-let-7a	hsa-let-7a-3	22	16906129
hsa-let-7a	hsa-let-7a-1	9	15531879
hsa-let-7a	hsa-let-7a-2	11	15531879
hsa-let-7a	hsa-let-7a-3	22	15531879
hsa-let-7a*	hsa-let-7a-1	9	20485546
hsa-let-7a*	hsa-let-7a-3	22	20485546
hsa-let-7a*	hsa-let-7a-1	9	20116252
hsa-let-7a*	hsa-let-7a-3	22	20116252
hsa-let-7a*	hsa-let-7a-1	9	20054295
hsa-let-7a*	hsa-let-7a-3	22	20054295
hsa-let-7a*	hsa-let-7a-1	9	16906129
hsa-let-7a*	hsa-let-7a-3	22	16906129
hsa-let-7a*	hsa-let-7a-1	9	15531879
hsa-let-7a*	hsa-let-7a-3	22	15531879
hsa-let-7b	hsa-let-7b	22	20485546
hsa-let-7b	hsa-let-7b	22	20116252
hsa-let-7b	hsa-let-7b	22	20054295
hsa-let-7b	hsa-let-7b	22	16906129
hsa-let-7b	hsa-let-7b	22	15531879
hsa-let-7b*	hsa-let-7b	22	20485546
hsa-let-7b*	hsa-let-7b	22	20116252
hsa-let-7b*	hsa-let-7b	22	20054295
hsa-let-7b*	hsa-let-7b	22	16906129
hsa-let-7b*	hsa-let-7b	22	15531879
hsa-let-7c	hsa-let-7c	21	20485546
hsa-let-7c	hsa-let-7c	21	20116252
hsa-let-7c	hsa-let-7c	21	20054295
hsa-let-7c	hsa-let-7c	21	16906129
hsa-let-7c	hsa-let-7c	21	15531879
hsa-let-7c*	hsa-let-7c	21	20485546
hsa-let-7c*	hsa-let-7c	21	20116252
hsa-let-7c*	hsa-let-7c	21	20054295
hsa-let-7c*	hsa-let-7c	21	16906129
hsa-let-7c*	hsa-let-7c	21	15531879
hsa-let-7d	hsa-let-7d	9	20485546
hsa-let-7d	hsa-let-7d	9	20116252
hsa-let-7d	hsa-let-7d	9	20054295
hsa-let-7d	hsa-let-7d	9	16906129
hsa-let-7d	hsa-let-7d	9	15531879
hsa-let-7d*	hsa-let-7d	9	20485546
hsa-let-7d*	hsa-let-7d	9	20116252
hsa-let-7d*	hsa-let-7d	9	20054295
hsa-let-7d*	hsa-let-7d	9	16906129
hsa-let-7d*	hsa-let-7d	9	15531879
hsa-let-7e	hsa-let-7e	19	20485546
hsa-let-7e	hsa-let-7e	19	20116252
hsa-let-7e	hsa-let-7e	19	20054295
hsa-let-7e	hsa-let-7e	19	16906129
hsa-let-7e	hsa-let-7e	19	15531879
hsa-let-7e*	hsa-let-7e	19	20485546
hsa-let-7e*	hsa-let-7e	19	20116252
hsa-let-7e*	hsa-let-7e	19	20054295
hsa-let-7e*	hsa-let-7e	19	16906129
hsa-let-7e*	hsa-let-7e	19	15531879
hsa-let-7f	hsa-let-7f-1	9	20485546
hsa-let-7f	hsa-let-7f-2	X	20485546
hsa-let-7f	hsa-let-7f-1	9	20116252
hsa-let-7f	hsa-let-7f-2	X	20116252
hsa-let-7f	hsa-let-7f-1	9	20054295
hsa-let-7f	hsa-let-7f-2	X	20054295
hsa-let-7f	hsa-let-7f-1	9	16906129
hsa-let-7f	hsa-let-7f-2	X	16906129
hsa-let-7f	hsa-let-7f-1	9	15531879
hsa-let-7f	hsa-let-7f-2	X	15531879
hsa-let-7f-1*	hsa-let-7f-1	9	20485546
hsa-let-7f-1*	hsa-let-7f-1	9	20116252
hsa-let-7f-1*	hsa-let-7f-1	9	20054295
hsa-let-7f-1*	hsa-let-7f-1	9	16906129
hsa-let-7f-1*	hsa-let-7f-1	9	15531879
hsa-let-7f-2*	hsa-let-7f-2	X	20485546
hsa-let-7f-2*	hsa-let-7f-2	X	20116252
hsa-let-7f-2*	hsa-let-7f-2	X	20054295
hsa-let-7f-2*	hsa-let-7f-2	X	16906129
hsa-let-7f-2*	hsa-let-7f-2	X	15531879
hsa-let-7g	hsa-let-7g	3	20485546
hsa-let-7g	hsa-let-7g	3	20116252
hsa-let-7g	hsa-let-7g	3	20054295
hsa-let-7g	hsa-let-7g	3	16906129
hsa-let-7g	hsa-let-7g	3	15531879
hsa-let-7g*	hsa-let-7g	3	20485546
hsa-let-7g*	hsa-let-7g	3	20116252
hsa-let-7g*	hsa-let-7g	3	20054295
hsa-let-7g*	hsa-let-7g	3	16906129
hsa-let-7g*	hsa-let-7g	3	15531879
hsa-let-7i	hsa-let-7i	12	20485546
hsa-let-7i	hsa-let-7i	12	20116252
hsa-let-7i	hsa-let-7i	12	20054295
hsa-let-7i	hsa-let-7i	12	16906129
hsa-let-7i	hsa-let-7i	12	15531879
hsa-let-7i*	hsa-let-7i	12	20485546
hsa-let-7i*	hsa-let-7i	12	20116252
hsa-let-7i*	hsa-let-7i	12	20054295
hsa-let-7i*	hsa-let-7i	12	16906129
hsa-let-7i*	hsa-let-7i	12	15531879
hsa-miR-1	hsa-mir-1-2	18	19679836
hsa-miR-1	hsa-mir-1-1	20	19679836
hsa-miR-1	hsa-mir-1-2	18	19440340
hsa-miR-1	hsa-mir-1-1	20	19440340
hsa-miR-100	hsa-mir-100	11	20585341
hsa-miR-100	hsa-mir-100	11	19851984
hsa-miR-100	hsa-mir-100	11	19138993
hsa-miR-100	hsa-mir-100	11	20732906
hsa-miR-100*	hsa-mir-100	11	20585341
hsa-miR-100*	hsa-mir-100	11	19851984
hsa-miR-100*	hsa-mir-100	11	19138993
hsa-miR-100*	hsa-mir-100	11	20732906
hsa-miR-107	hsa-mir-107	10	20485546
hsa-miR-107	hsa-mir-107	10	19440340
hsa-miR-124	hsa-mir-124-1	8	19851984
hsa-miR-124	hsa-mir-124-1	8	19138993
hsa-miR-124	hsa-mir-124-1	8	20732906
hsa-miR-124*	hsa-mir-124-1	8	19851984
hsa-miR-124*	hsa-mir-124-1	8	19138993
hsa-miR-124*	hsa-mir-124-1	8	20732906
hsa-miR-133a	hsa-mir-133a-1	18	19440340
hsa-miR-133a	hsa-mir-133a-2	20	19440340
hsa-miR-133b	hsa-mir-133b	6	19440340
hsa-miR-134	hsa-mir-134	14	20485546
hsa-miR-143	hsa-mir-143	5	20485546
hsa-miR-143*	hsa-mir-143	5	20485546
hsa-miR-144	hsa-mir-144	17	19347935
hsa-miR-144*	hsa-mir-144	17	19347935
hsa-miR-145	hsa-mir-145	5	20485546
hsa-miR-145	hsa-mir-145	5	19142192
hsa-miR-145*	hsa-mir-145	5	20485546
hsa-miR-145*	hsa-mir-145	5	19142192
hsa-miR-146a	hsa-mir-146a	5	20585341
hsa-miR-146a	hsa-mir-146a	5	19138993
hsa-miR-146a	hsa-mir-146a	5	20732906
hsa-miR-146a*	hsa-mir-146a	5	20585341
hsa-miR-146a*	hsa-mir-146a	5	19138993
hsa-miR-146a*	hsa-mir-146a	5	20732906
hsa-miR-151-3p	hsa-mir-151	8	21319996
hsa-miR-151-5p	hsa-mir-151	8	21319996
hsa-miR-15a	hsa-mir-15a	13	19721432
hsa-miR-15a*	hsa-mir-15a	13	19721432
hsa-miR-15b	hsa-mir-15b	3	19721432
hsa-miR-15b*	hsa-mir-15b	3	19721432
hsa-miR-16	hsa-mir-16-1	13	20485546
hsa-miR-16	hsa-mir-16-2	3	20485546
hsa-miR-17	hsa-mir-17	13	20847043
hsa-miR-17*	hsa-mir-17	13	20847043
hsa-miR-181a	hsa-mir-181a-2	9	19440340
hsa-miR-181a	hsa-mir-181a-1	1	19440340
hsa-miR-181a*	hsa-mir-181a-1	1	19440340
hsa-miR-181a-2*	hsa-mir-181a-2	9	19440340
hsa-miR-181b	hsa-mir-181b-1	1	19440340
hsa-miR-181b	hsa-mir-181b-2	9	19440340
hsa-miR-181c	hsa-mir-181c	19	19440340
hsa-miR-181c*	hsa-mir-181c	19	19440340
hsa-miR-181d	hsa-mir-181d	19	19440340
hsa-miR-196a	hsa-mir-196a-2	12	20585341
hsa-miR-196a	hsa-mir-196a-2	12	19851984
hsa-miR-196a	hsa-mir-196a-2	12	19138993
hsa-miR-196a	hsa-mir-196a-2	12	20732906
hsa-miR-196a*	hsa-mir-196a-2	12	20585341
hsa-miR-196a*	hsa-mir-196a-2	12	19851984
hsa-miR-196a*	hsa-mir-196a-2	12	19138993
hsa-miR-196a*	hsa-mir-196a-2	12	20732906
hsa-miR-200c	hsa-mir-200c	12	20485546
hsa-miR-200c*	hsa-mir-200c	12	20485546
hsa-miR-21	hsa-mir-21	17	21273303
hsa-miR-21	hsa-mir-21	17	20485546
hsa-miR-21	hsa-mir-21	17	20432256
hsa-miR-21*	hsa-mir-21	17	21273303
hsa-miR-21*	hsa-mir-21	17	20485546
hsa-miR-21*	hsa-mir-21	17	20432256
hsa-miR-219-1-3p	hsa-mir-219-1	6	20585341
hsa-miR-219-1-3p	hsa-mir-219-1	6	19851984
hsa-miR-219-1-3p	hsa-mir-219-1	6	19138993
hsa-miR-219-1-3p	hsa-mir-219-1	6	20732906
hsa-miR-219-5p	hsa-mir-219-1	6	20585341
hsa-miR-219-5p	hsa-mir-219-1	6	19851984
hsa-miR-219-5p	hsa-mir-219-1	6	19138993
hsa-miR-219-5p	hsa-mir-219-1	6	20732906
hsa-miR-223	hsa-mir-223	X	19059913
hsa-miR-223*	hsa-mir-223	X	19059913
hsa-miR-23a	hsa-mir-23a	19	19440340
hsa-miR-23a*	hsa-mir-23a	19	19440340
hsa-miR-23b	hsa-mir-23b	9	19440340
hsa-miR-23b*	hsa-mir-23b	9	19440340
hsa-miR-26a	hsa-mir-26a-1	3	20585341
hsa-miR-26a	hsa-mir-26a-2	12	20585341
hsa-miR-26a	hsa-mir-26a-1	3	19851984
hsa-miR-26a	hsa-mir-26a-2	12	19851984
hsa-miR-26a	hsa-mir-26a-1	3	19138993
hsa-miR-26a	hsa-mir-26a-1	3	20732906
hsa-miR-26a-1*	hsa-mir-26a-1	3	20585341
hsa-miR-26a-1*	hsa-mir-26a-1	3	19851984
hsa-miR-26a-1*	hsa-mir-26a-1	3	19138993
hsa-miR-26a-1*	hsa-mir-26a-1	3	20732906
hsa-miR-30a	hsa-mir-30a	6	20558544
hsa-miR-30a	hsa-mir-30a	6	19851984
hsa-miR-30a	hsa-mir-30a	6	19138993
hsa-miR-30a	hsa-mir-30a	6	19906860
hsa-miR-30a	hsa-mir-30a	6	20732906
hsa-miR-30a*	hsa-mir-30a	6	20558544
hsa-miR-30a*	hsa-mir-30a	6	19851984
hsa-miR-30a*	hsa-mir-30a	6	19138993
hsa-miR-30a*	hsa-mir-30a	6	19906860
hsa-miR-30a*	hsa-mir-30a	6	20732906
hsa-miR-30b	hsa-mir-30b	8	19906860
hsa-miR-30b*	hsa-mir-30b	8	19906860
hsa-miR-30c	hsa-mir-30c-1	1	19851984
hsa-miR-30c	hsa-mir-30c-1	1	19138993
hsa-miR-30c	hsa-mir-30c-2	6	19906860
hsa-miR-30c	hsa-mir-30c-1	1	19906860
hsa-miR-30c	hsa-mir-30c-1	1	20732906
hsa-miR-30c-1*	hsa-mir-30c-1	1	19851984
hsa-miR-30c-1*	hsa-mir-30c-1	1	19138993
hsa-miR-30c-1*	hsa-mir-30c-1	1	19906860
hsa-miR-30c-1*	hsa-mir-30c-1	1	20732906
hsa-miR-30c-2*	hsa-mir-30c-2	6	19906860
hsa-miR-30d	hsa-mir-30d	8	21319996
hsa-miR-30d	hsa-mir-30d	8	19906860
hsa-miR-30d*	hsa-mir-30d	8	21319996
hsa-miR-30d*	hsa-mir-30d	8	19906860
hsa-miR-30e	hsa-mir-30e	1	19906860
hsa-miR-30e*	hsa-mir-30e	1	19906860
hsa-miR-373	hsa-mir-373	19	19851984
hsa-miR-373	hsa-mir-373	19	19138993
hsa-miR-373	hsa-mir-373	19	20732906
hsa-miR-373*	hsa-mir-373	19	19851984
hsa-miR-373*	hsa-mir-373	19	19138993
hsa-miR-373*	hsa-mir-373	19	20732906
hsa-miR-375	hsa-mir-375	2	19347935
hsa-miR-378	hsa-mir-378	5	20432256
hsa-miR-378*	hsa-mir-378	5	20432256
hsa-miR-423-3p	hsa-mir-423	17	20585341
hsa-miR-423-3p	hsa-mir-423	17	19851984
hsa-miR-423-3p	hsa-mir-423	17	19138993
hsa-miR-423-3p	hsa-mir-423	17	20732906
hsa-miR-423-5p	hsa-mir-423	17	20585341
hsa-miR-423-5p	hsa-mir-423	17	19851984
hsa-miR-423-5p	hsa-mir-423	17	19138993
hsa-miR-423-5p	hsa-mir-423	17	20732906
hsa-miR-449a	hsa-mir-449a	5	20485546
hsa-miR-492	hsa-mir-492	12	19851984
hsa-miR-492	hsa-mir-492	12	19138993
hsa-miR-492	hsa-mir-492	12	20732906
hsa-miR-503	hsa-mir-503	X	20485546
hsa-miR-604	hsa-mir-604	10	20585341
hsa-miR-604	hsa-mir-604	10	19851984
hsa-miR-604	hsa-mir-604	10	19138993
hsa-miR-604	hsa-mir-604	10	20732906
hsa-miR-608	hsa-mir-608	10	19851984
hsa-miR-608	hsa-mir-608	10	19138993
hsa-miR-608	hsa-mir-608	10	20732906
hsa-miR-631	hsa-mir-631	15	19138993
hsa-miR-631	hsa-mir-631	15	20732906
hsa-miR-92a	hsa-mir-92a-1	13	20847043
hsa-miR-92a	hsa-mir-92a-2	X	20847043

Cis-Nats regulation

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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

AutismKB 2.0

Annotation Detail for DGCR8

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics