Annotation Detail for SOX9

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Basic Information Top

Gene Symbol:	SOX9 ( CMD1,CMPD1,SRA1 )
Gene Full Name:	SRY (sex determining region Y)-box 9
Band:	17q24.3
Quick Links	Entrez ID:6662; OMIM: 608160; Uniprot ID:SOX9_HUMAN; ENSEMBL ID: ENSG00000125398; HGNC ID: 11204
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:0 results
Experimental PTM Sites from dbPTM:2 results
Predicted PTM Sites by profile HMM from dbPTM:38 results

No data

Location(AA)	Modification	Resource
23	Phosphoserine(CDC2)	HMM predict
23	Phosphoserine(CDK)	HMM predict
25	O-linked	HMM predict
33	Phosphoserine(CDK)	HMM predict
33	O-linked	HMM predict
37	O-linked	HMM predict
37	Phosphoserine(CK1)	HMM predict
64	Phosphoserine(CK2)	HMM predict
96	N-linked	HMM predict
101	N-linked	HMM predict
172	Sulfotyrosine	HMM predict
181	Phosphoserine(PKB)	HMM predict
181	Phosphoserine(PKG)	HMM predict
181	Phosphoserine(PKC)	HMM predict
181	Phosphoserine(PKA)	HMM predict
181	Phosphoserine(PKA)	HMM predict
214	Phosphoserine(IKK)	HMM predict
228	O-linked	HMM predict
231	Phosphoserine(ATM)	HMM predict
231	O-linked	HMM predict
236	Phosphothreonine(CDK)	HMM predict
236	Phosphothreonine(MAPK)	HMM predict
236	O-linked	HMM predict
240	O-linked	HMM predict
297	Phosphotyrosine(Syk)	HMM predict
297	Phosphotyrosine(INSR)	HMM predict
314	O-linked	HMM predict
323	O-linked	HMM predict
323	O-linked	HMM predict
324	O-linked	HMM predict
327	Phosphothreonine(MAPK)	HMM predict
384	O-linked	HMM predict
386	O-linked	HMM predict
392	Phosphoserine(ATM)	HMM predict
428	Sulfotyrosine	HMM predict
442	Sulfotyrosine	HMM predict
447	N-linked	HMM predict
468	Phosphotyrosine(INSR)	HMM predict

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

RefSeq ID: NM_000346
Location:chr17 67628755-67634146
strand:+

Upstream the gene:14 results
Downstream the gene:6 results
Inside the gene:10 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	67626231	67626553	322	2364
Oct1	H2O2-Hela	GSE14283	67609669	67609696	27	19073
Oct1	Hela	GSE14283	67609635	67609712	77	19082
Oct1	Hela	GSE14283	67627786	67627847	61	939
RARG	MCF7	GSE15244	67612505	67613245	740	15881
Rb	Senescent	GSE19898	67628197	67628857	660	229
hScc1	Bcell	GSE12603	67623572	67623952	380	4994
hScc1	Bcell	GSE12603	67624617	67625229	612	3833
hScc1	Bcell	GSE12603	67626109	67626775	666	2314
hScc1	Bcell	GSE12603	67627861	67628211	350	720
hScc1	CdLS	GSE12603	67625991	67626959	968	2281
hScc1	G2	GSE9613	67625723	67626741	1018	2524
p130	Quiescent	GSE19898	67628424	67628703	279	192
p130	Senescent	GSE19898	67624870	67625170	300	3736

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
ER	Fulvestrant-MCF7	GSE14664	67646313	67646373	60	12197
Oct1	Hela	GSE14283	67642978	67643009	31	8847
RARA	MCF7	GSE15244	67634118	67635202	1084	514
RARA	MCF7	GSE15244	67642686	67645026	2340	9710
RARG	MCF7	GSE15244	67634186	67635549	1363	721
RARG	MCF7	GSE15244	67642686	67645653	2967	10023

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length
CTCF	G2	GSE9613	67629038	67629803	765
CTCF	G2	GSE9613	67631377	67631942	565
H3ac	HepG2	E	67629524	67630187	663
H3ac	HepG2	E	67630699	67631162	463
H3ac	HepG2	E	67631973	67632347	374
Oct1	Hela	GSE14283	67633319	67633354	35
Rb	shRbSenescence	GSE19898	67631819	67632120	301
hScc1	Bcell	GSE12603	67631731	67632041	310
hScc1	CdLS	GSE12603	67627825	67630915	3090
p130	shRbSenescent	GSE19898	67632287	67632492	205

Validated miRNA targets

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miR Walk:82 results
Tarbase V5.0:0 results

Micro RNA Name	Stem Loop Name	The chromosome that miRNA located	Publication
hsa-miR-124	hsa-mir-124-1	8	19820183
hsa-miR-124	hsa-mir-124-2	8	19820183
hsa-miR-124	hsa-mir-124-3	20	19820183
hsa-miR-124	hsa-mir-124-1	8	19287386
hsa-miR-124	hsa-mir-124-2	8	19287386
hsa-miR-124	hsa-mir-124-3	20	19287386
hsa-miR-124	hsa-mir-124-1	8	19820183
hsa-miR-124	hsa-mir-124-2	8	19820183
hsa-miR-124	hsa-mir-124-3	20	19820183
hsa-miR-124	hsa-mir-124-1	8	19287386
hsa-miR-124	hsa-mir-124-2	8	19287386
hsa-miR-124	hsa-mir-124-3	20	19287386
hsa-miR-138	hsa-mir-138-2	16	21288128
hsa-miR-138	hsa-mir-138-1	3	21288128
hsa-miR-138	hsa-mir-138-2	16	21288128
hsa-miR-138	hsa-mir-138-1	3	21288128
hsa-miR-140-3p	hsa-mir-140	16	21288128
hsa-miR-140-3p	hsa-mir-140	16	19714579
hsa-miR-140-3p	hsa-mir-140	16	21288128
hsa-miR-140-3p	hsa-mir-140	16	19714579
hsa-miR-140-5p	hsa-mir-140	16	21288128
hsa-miR-140-5p	hsa-mir-140	16	19714579
hsa-miR-140-5p	hsa-mir-140	16	21288128
hsa-miR-140-5p	hsa-mir-140	16	19714579
hsa-miR-144	hsa-mir-144	17	21288128
hsa-miR-144	hsa-mir-144	17	21288128
hsa-miR-144*	hsa-mir-144	17	21288128
hsa-miR-144*	hsa-mir-144	17	21288128
hsa-miR-17	hsa-mir-17	13	17765889
hsa-miR-17	hsa-mir-17	13	17765889
hsa-miR-17*	hsa-mir-17	13	17765889
hsa-miR-17*	hsa-mir-17	13	17765889
hsa-miR-181b	hsa-mir-181b-1	1	20868653
hsa-miR-181b	hsa-mir-181b-2	9	20868653
hsa-miR-181b	hsa-mir-181b-1	1	20868653
hsa-miR-181b	hsa-mir-181b-2	9	20868653
hsa-miR-196b	hsa-mir-196b	7	21288128
hsa-miR-196b	hsa-mir-196b	7	21288128
hsa-miR-199a-3p	hsa-mir-199a-1	19	21288128
hsa-miR-199a-3p	hsa-mir-199a-2	1	21288128
hsa-miR-199a-3p	hsa-mir-199a-1	19	19251704
hsa-miR-199a-3p	hsa-mir-199a-2	1	19251704
hsa-miR-199a-3p	hsa-mir-199a-1	19	21288128
hsa-miR-199a-3p	hsa-mir-199a-2	1	21288128
hsa-miR-199a-3p	hsa-mir-199a-1	19	19251704
hsa-miR-199a-3p	hsa-mir-199a-2	1	19251704
hsa-miR-199a-5p	hsa-mir-199a-1	19	21288128
hsa-miR-199a-5p	hsa-mir-199a-2	1	21288128
hsa-miR-199a-5p	hsa-mir-199a-1	19	21288128
hsa-miR-199a-5p	hsa-mir-199a-2	1	21288128
hsa-miR-199b-3p	hsa-mir-199b	9	21288128
hsa-miR-199b-3p	hsa-mir-199b	9	21288128
hsa-miR-199b-5p	hsa-mir-199b	9	21288128
hsa-miR-199b-5p	hsa-mir-199b	9	21288128
hsa-miR-202*	hsa-mir-202	10	21389341
hsa-miR-202*	hsa-mir-202	10	21389341
hsa-miR-21	hsa-mir-21	17	21288128
hsa-miR-21	hsa-mir-21	17	21288128
hsa-miR-21*	hsa-mir-21	17	21288128
hsa-miR-21*	hsa-mir-21	17	21288128
hsa-miR-214	hsa-mir-214	1	21288128
hsa-miR-214	hsa-mir-214	1	21288128
hsa-miR-214*	hsa-mir-214	1	21288128
hsa-miR-214*	hsa-mir-214	1	21288128
hsa-miR-222	hsa-mir-222	X	21288128
hsa-miR-222	hsa-mir-222	X	21288128
hsa-miR-222*	hsa-mir-222	X	21288128
hsa-miR-222*	hsa-mir-222	X	21288128
hsa-miR-27a	hsa-mir-27a	19	21288128
hsa-miR-27a	hsa-mir-27a	19	21288128
hsa-miR-27a*	hsa-mir-27a	19	21288128
hsa-miR-27a*	hsa-mir-27a	19	21288128
hsa-miR-486-3p	hsa-mir-486	8	20868653
hsa-miR-486-3p	hsa-mir-486	8	20868653
hsa-miR-486-5p	hsa-mir-486	8	20868653
hsa-miR-486-5p	hsa-mir-486	8	20868653
hsa-miR-675	hsa-mir-675	11	20529846
hsa-miR-675	hsa-mir-675	11	20529846
hsa-miR-92a	hsa-mir-92a-1	13	17765889
hsa-miR-92a	hsa-mir-92a-2	X	17765889
hsa-miR-92a	hsa-mir-92a-1	13	17765889
hsa-miR-92a	hsa-mir-92a-2	X	17765889

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 SOX9

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics