Annotation Detail for GIGYF2

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Basic Information Top

Gene Symbol:	GIGYF2 ( DKFZp686I15154,DKFZp686J17223,FLJ23368,GYF2,KIAA0642,PARK11,PERQ2,PERQ3,TNRC15 )
Gene Full Name:	GRB10 interacting GYF protein 2
Band:	2q37.1
Quick Links	Entrez ID:26058; OMIM: 612003; Uniprot ID:PERQ2_HUMAN; ENSEMBL ID: ENSG00000204120; HGNC ID: 11960
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:15 results
Experimental PTM Sites from dbPTM:13 results
Predicted PTM Sites by profile HMM from dbPTM:66 results

Location(AA)	Modification
19	Phosphoserine.
20	Phosphoserine.
25	Phosphothreonine.
26	Phosphoserine.
30	Phosphoserine.
158	Phosphoserine.
160	Phosphoserine.
189	Phosphoserine.
236	Phosphoserine.
242	Phosphoserine.
370	Phosphothreonine.
373	Phosphothreonine.
376	Phosphoserine.
382	Phosphothreonine.
593	Phosphoserine.

Location(AA)	Modifications	Resource
25	Phosphothreonine (By similarity).	Swiss-Prot 53.0
26	Phosphoserine.	Swiss-Prot 53.0
26	Phosphoserine	Phospho.ELM 6.0
30	Phosphoserine.	Swiss-Prot 53.0
30	Phosphoserine	Phospho.ELM 6.0
158	Phosphoserine.	Swiss-Prot 53.0
158	Phosphoserine	Phospho.ELM 6.0
236	Phosphoserine	Phospho.ELM 6.0
236	Phosphoserine.	Swiss-Prot 53.0
242	Phosphoserine	Phospho.ELM 6.0
242	Phosphoserine.	Swiss-Prot 53.0
382	Phosphothreonine.	Swiss-Prot 53.0
382	Phosphothreonine	Phospho.ELM 6.0

Location(AA)	Modification	Resource
23	Phosphoserine(IKK)	HMM predict
26	Phosphoserine(MAPK)	HMM predict
26	O-linked	HMM predict
30	Phosphoserine(CDC2)	HMM predict
30	O-linked	HMM predict
30	Phosphoserine(CDK)	HMM predict
30	Phosphoserine(MAPK)	HMM predict
93	Phosphoserine(PKB)	HMM predict
118	Methylarginine	HMM predict
121	Phosphoserine	HMM predict
122	Phosphoserine(CDC2)	HMM predict
124	Methylarginine	HMM predict
126	Methylarginine	HMM predict
128	Methylarginine	HMM predict
158	Phosphoserine(ATM)	HMM predict
236	Phosphoserine(IKK)	HMM predict
236	Phosphoserine(CDC2)	HMM predict
268	Phosphotyrosine(EGFR)	HMM predict
277	Phosphoserine(CK2)	HMM predict
284	Phosphoserine(CK1)	HMM predict
335	Phosphoserine(ATM)	HMM predict
370	Phosphothreonine(MAPK)	HMM predict
373	O-linked	HMM predict
374	O-linked	HMM predict
376	Phosphoserine(CDC2)	HMM predict
376	O-linked	HMM predict
377	O-linked	HMM predict
388	Phosphoserine(ATM)	HMM predict
388	Phosphoserine(IKK)	HMM predict
438	Phosphoserine(ATM)	HMM predict
457	N-linked	HMM predict
459	O-linked	HMM predict
459	Phosphoserine(CDK)	HMM predict
461	O-linked	HMM predict
461	Phosphothreonine(PKC)	HMM predict
514	Phosphoserine(CAMK2)	HMM predict
538	Phosphotyrosine(Syk)	HMM predict
593	Phosphoserine(CDK)	HMM predict
593	Phosphoserine(CDC2)	HMM predict
671	Phosphoserine(PKG)	HMM predict
684	Phosphoserine(IKK)	HMM predict
684	Phosphoserine	HMM predict
684	Phosphoserine(CAMK2)	HMM predict
684	Phosphoserine(PKB)	HMM predict
699	Phosphoserine(ATM)	HMM predict
702	O-linked	HMM predict
933	O-linked	HMM predict
934	N-linked	HMM predict
935	O-linked	HMM predict
940	Phosphoserine(IKK)	HMM predict
991	N-linked	HMM predict
993	O-linked	HMM predict
996	O-linked	HMM predict
998	Phosphothreonine(PKC)	HMM predict
1031	N-linked	HMM predict
1032	N-linked	HMM predict
1036	N-linked	HMM predict
1039	O-linked	HMM predict
1067	Phosphoserine(IKK)	HMM predict
1090	N-linked	HMM predict
1093	N-linked	HMM predict
1095	N-linked	HMM predict
1098	N-linked	HMM predict
1173	Phosphotyrosine(INSR)	HMM predict
1235	N-linked	HMM predict
1282	N-linked	HMM predict

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

RefSeq ID: NM_015575
Location:chr2 233270284-233431561
strand:+

Upstream the gene:6 results
Downstream the gene:0 results
Inside the gene:20 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
Pol2	GM12878	GSE19551	233269862	233270573	711	67
USF1	HepG2	E	233267364	233267818	454	2694
USF1	HepG2	E	233268530	233268771	241	1634
USF1	HepG2	E	233269418	233270345	927	403
USF2	HepG2	E	233269418	233270103	685	524
hScc1	Bcell	GSE12603	233269870	233270652	782	24

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length
CTCF	CD4	GSE12889	233426085	233426314	229
CTCF	CD4	SISSRdata	233426085	233426314	229
CTCF	G2	GSE9613	233270042	233270622	580
FOXA1	MCF7	GSE15244	233317944	233318159	215
Fos	K562	GSE19551	233426977	233427416	439
FoxA1	MCF7	MACSdata	233317909	233318200	291
H3K4me3	colorectal	cancer	233270900	233271747	847
H3ac	HepG2	E	233270652	233272840	2188
NFkBII	GM12878	GSE19485	233354137	233355712	1575
NFkBII	GM12892	GSE19485	233354293	233355582	1289
Nanog	hES	GSE18292	233426136	233426343	207
PHF8	293T	GSE20725	233269607	233270977	1370
PHF8	HeLa	GSE20725	233270146	233271105	959
Stat6	IL-4-hr1	GSE17850	233330222	233330772	550
TAF	Hela	GSE8489	233386499	233386713	214
TAF	k562	GSE8489	233271199	233272348	1149
TAF	k562	GSE8489	233288846	233289282	436
TAF	k562	GSE8489	233291653	233291925	272
USF1	HepG2	E	233270652	233272840	2188
USF2	HepG2	E	233429672	233430439	767

Validated miRNA targets

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Cis-Nats regulation

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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
15803	mRNA	TNRC15	chr2	233387560	233548823	33	mRNA	KCNJ13	chr2	233456678	233466780	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

AutismKB 2.0

Annotation Detail for GIGYF2

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics