AutismKB 2.0

Annotation Detail for GTF2IRD1


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Basic Information Top
Gene Symbol:GTF2IRD1 ( BEN,CREAM1,GTF3,MUSTRD1,RBAP2,WBS,WBSCR11,WBSCR12,hMusTRD1alpha1 )
Gene Full Name: GTF2I repeat domain containing 1
Band: 7q11.23
Quick LinksEntrez ID:9569; OMIM: 604318; Uniprot ID:GT2D1_HUMAN; ENSEMBL ID: ENSG00000006704; HGNC ID: 4661
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
448Phosphoserine.
654Phosphoserine.
905Nuclear localization signal (Potential).
Location(AA) Modifications Resource
448Phosphoserine.Swiss-Prot 53.0
448PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
25Phosphothreonine(PKC)HMM predict
40Phosphoserine(IKK)HMM predict
118Phosphoserine(CK1)HMM predict
148Phosphoserine(PKG)HMM predict
404Phosphotyrosine(SRC)HMM predict
441Phosphothreonine(PKA)HMM predict
448Phosphoserine(ATM)HMM predict
448O-linkedHMM predict
448Phosphoserine(MAPK)HMM predict
475Phosphoserine(IKK)HMM predict
512Phosphoserine(CDK)HMM predict
512Phosphoserine(MAPK)HMM predict
533Phosphotyrosine(Syk)HMM predict
533SulfotyrosineHMM predict
660O-linkedHMM predict
664Phosphoserine(ATM)HMM predict
855Phosphotyrosine(Abl)HMM predict
906Phosphoserine(CAMK2)HMM predict
906Phosphoserine(PKA)HMM predict
910Phosphoserine(IKK)HMM predict
921Phosphoserine(CK1)HMM predict
923Phosphoserine(IKK)HMM predict
923Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005685
  • Location:chr7 73506372-73654845
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 73597570 73597729 159 0
CTCF CD4GSE12889 73619087 73619311 224 0
CTCF CD4SISSRdata 73597570 73597729 159 0
CTCF CD4SISSRdata 73619087 73619311 224 0
CTCF HelaGSE12889 73597455 73597717 262 0
CTCF HelaGSE12889 73619087 73619364 277 0
CTCF JurkatGSE12889 73597543 73597726 183 0
CTCF JurkatGSE12889 73618971 73619312 341 0
CTCF G2GSE9613 73506816 73507464 648 0
CTCF G2GSE9613 73508981 73509221 240 0
CTCF G2GSE9613 73518337 73518626 289 0
CTCF G2GSE9613 73519525 73519726 201 0
CTCF G2GSE9613 73525091 73525331 240 0
CTCF G2GSE9613 73531260 73531577 317 0
CTCF G2GSE9613 73532438 73533371 933 0
CTCF G2GSE9613 73537321 73537521 200 0
CTCF G2GSE9613 73554519 73554783 264 0
CTCF G2GSE9613 73558406 73559152 746 0
CTCF G2GSE9613 73559768 73560170 402 0
CTCF G2GSE9613 73566465 73567043 578 0
CTCF G2GSE9613 73570335 73570658 323 0
CTCF G2GSE9613 73587648 73588565 917 0
CTCF G2GSE9613 73590140 73590356 216 0
CTCF G2GSE9613 73597176 73598118 942 0
CTCF G2GSE9613 73599376 73599590 214 0
CTCF G2GSE9613 73600044 73600372 328 0
CTCF G2GSE9613 73605905 73606580 675 0
CTCF G2GSE9613 73607657 73607986 329 0
CTCF G2GSE9613 73611228 73612018 790 0
CTCF G2GSE9613 73619074 73619277 203 0
CTCF G2GSE9613 73621032 73621394 362 0
CTCF G2GSE9613 73623629 73623809 180 0
CTCF G2GSE9613 73638669 73639062 393 0
CTCF G2GSE9613 73642022 73642322 300 0
ER E2-MCF7GSE14664 73508033 73508068 35 0
ER Fulvestrant-MCF7GSE14664 73508030 73508069 39 0
FOXA1 MCF7GSE15244 73632515 73633163 648 0
FoxA1 MCF7MACSdata 73517253 73517520 267 0
Gata2 K562GSE18868 73636556 73637270 714 0
H3ac HepG2E 73632885 73633240 355 0
Myc K562GSE19551 73597499 73597738 239 0
Myc K562GSE19551 73636729 73637061 332 0
NFkBII GM10847GSE19485 73639545 73640721 1176 0
NFkBII GM12878GSE19485 73639388 73640935 1547 0
NFkBII GM12878GSE19485 73650735 73652347 1612 0
NFkBII GM15510GSE19485 73639562 73640805 1243 0
Oct1 H2O2-HelaGSE14283 73515628 73515664 36 0
Oct1 H2O2-HelaGSE14283 73562565 73562637 72 0
Oct1 H2O2-HelaGSE14283 73590738 73590765 27 0
Oct1 H2O2-HelaGSE14283 73598370 73598398 28 0
Oct1 H2O2-HelaGSE14283 73617245 73617273 28 0
Oct1 H2O2-HelaGSE14283 73645511 73645557 46 0
Oct1 HelaGSE14283 73508036 73508086 50 0
Oct1 HelaGSE14283 73515615 73515675 60 0
Oct1 HelaGSE14283 73536620 73536657 37 0
Oct1 HelaGSE14283 73590736 73590773 37 0
Oct1 HelaGSE14283 73645511 73645557 46 0
Oct1 HelaGSE14283 73650874 73650905 31 0
P300 T30-glioblastomaGSE21026 73650507 73651475 968 0
RARA MCF7GSE15244 73627380 73628130 750 0
RARA MCF7GSE15244 73632515 73633240 725 0
RARA MCF7GSE15244 73634307 73634626 319 0
RNAII Tamoxifen-MCF7GSE14664 73591345 73591381 36 0
Rb GrowingGSE19898 73619073 73619317 244 0
TFAP2C MCF7GSE21234 73514640 73515608 968 0
TFAP2C MCF7GSE21234 73517043 73517799 756 0
TFAP2C MCF7GSE21234 73528825 73529443 618 0
TFAP2C MCF7GSE21234 73529849 73530841 992 0
TFAP2C MCF7GSE21234 73533086 73534639 1553 0
TFAP2C MCF7GSE21234 73571167 73571522 355 0
TFAP2C MCF7GSE21234 73578044 73578654 610 0
TFAP2C MCF7GSE21234 73632163 73633228 1065 0
TFAP2C MCF7GSE21234 73633491 73634876 1385 0
USF1 HepG2E 73547828 73548260 432 0
hScc1 BcellGSE12603 73567977 73568330 353 0
hScc1 BcellGSE12603 73597176 73597824 648 0
hScc1 BcellGSE12603 73605984 73606485 501 0
hScc1 BcellGSE12603 73619074 73619277 203 0
hScc1 CdLSGSE12603 73619074 73619277 203 0
hScc1 G2GSE9613 73518337 73518658 321 0
hScc1 G2GSE9613 73531260 73531499 239 0
hScc1 G2GSE9613 73597176 73598076 900 0
hScc1 G2GSE9613 73619074 73619277 203 0
p130 QuiescentGSE19898 73632115 73632356 241 0
p130 shRbSenescentGSE19898 73506829 73506945 116 0
p130 shRbSenescentGSE19898 73563553 73563912 359 0
p63 keratinocytesGSE17611 73594383 73595366 983 0
p63 keratinocytesGSE17611 73627343 73628284 941 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-107 hsa-mir-107 10 20348243
hsa-miR-424 hsa-mir-424 X 20348243
hsa-miR-424* hsa-mir-424 X 20348243
hsa-miR-570 hsa-mir-570 3 20348243
hsa-miR-618 hsa-mir-618 12 20348243
hsa-miR-760 hsa-mir-760 1 20348243
No data
Cis-Nats regulation Top
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
24171 mRNA GTF2IRD1 chr7 73312770 73461561 4558 EST chr7 73359916 73364474 Non-exonic Bidirectional (NOB) pairs

Simple Query:


  (e.g. CHD8)

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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