AutismKB 2.0

Annotation Detail for ITGA5


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Basic Information Top
Gene Symbol:ITGA5 ( CD49e,FNRA,VLA5A )
Gene Full Name: integrin, alpha 5 (fibronectin receptor, alpha polypeptide)
Band: 12q13.13
Quick LinksEntrez ID:3678; OMIM: 135620; Uniprot ID:ITA5_HUMAN; ENSEMBL ID: ENSG00000161638; HGNC ID: 6141
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
84N-linked (GlcNAc...) (Potential).
182N-linked (GlcNAc...) (Potential).
297N-linked (GlcNAc...).
307N-linked (GlcNAc...).
316N-linked (GlcNAc...) (Potential).
524N-linked (GlcNAc...) (Potential).
530N-linked (GlcNAc...) (Potential).
593N-linked (GlcNAc...) (Potential).
609N-linked (GlcNAc...) (Potential).
675N-linked (GlcNAc...).
712N-linked (GlcNAc...) (Potential).
724N-linked (GlcNAc...) (Potential).
771N-linked (GlcNAc...).
773N-linked (GlcNAc...).
868N-linked (GlcNAc...) (Potential).
1028GFFKR motif.
Location(AA) Modifications Resource
84N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
182N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
297N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
307N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
316N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
524N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
530N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
593N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
609N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
675N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
712N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
724N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
773N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
868N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
5Phosphothreonine(CDK)HMM predict
5Phosphothreonine(MAPK)HMM predict
5Phosphothreonine(CDC2)HMM predict
8Phosphoserine(CDC2)HMM predict
8Phosphoserine(CDK)HMM predict
84N-linkedHMM predict
97Phosphotyrosine(Jak)HMM predict
124Phosphoserine(CK1)HMM predict
126Phosphoserine(CK1)HMM predict
127Phosphoserine(CK1)HMM predict
128Phosphoserine(CK2)HMM predict
170Phosphoserine(ATM)HMM predict
182N-linkedHMM predict
246Phosphotyrosine(EGFR)HMM predict
260Phosphothreonine(PKC)HMM predict
267Phosphotyrosine(Syk)HMM predict
271Phosphotyrosine(Syk)HMM predict
297N-linkedHMM predict
307N-linkedHMM predict
378O-linkedHMM predict
378Phosphothreonine(MAPK)HMM predict
397Phosphothreonine(CDK)HMM predict
407Phosphotyrosine(Syk)HMM predict
471Phosphotyrosine(INSR)HMM predict
514Phosphoserine(CK1)HMM predict
524N-linkedHMM predict
530N-linkedHMM predict
593N-linkedHMM predict
675N-linkedHMM predict
703Phosphotyrosine(SRC)HMM predict
712N-linkedHMM predict
773N-linkedHMM predict
774N-linkedHMM predict
785Phosphoserine(CK2)HMM predict
868N-linkedHMM predict
872N-linkedHMM predict
887Phosphoserine(CK1)HMM predict
904Phosphoserine(ATM)HMM predict
904Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002205
  • Location:chr12 53075313-53099316
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 53105746 53106030 284 6572
CTCF G2GSE9613 53108318 53108713 395 9199
CTCF G2GSE9613 53112235 53112574 339 13088
FOXA1 MCF7GSE15244 53099870 53100179 309 708
FOXA1 MCF7GSE15244 53112300 53112770 470 13219
FOXA1 MCF7GSE15244 53115537 53115897 360 16401
Fos K562GSE19551 53103158 53103764 606 4145
GATA3 MCF7GSE15244 53112122 53113515 1393 13502
H3K27me3 colorectalcancer 53100532 53102824 2292 2362
H3K27me3 colorectalcancer 53103163 53103647 484 4089
H3K27me3 colorectalcancer 53103985 53104400 415 4876
H3K27me3 colorectalcancer 53106073 53106788 715 7114
NFkBII GM12878GSE19485 53116837 53118050 1213 18127
RARG MCF7GSE15244 53103163 53103647 484 4089
RARG MCF7GSE15244 53112300 53113450 1150 13559
TAF HelaGSE8489 53105746 53106426 680 6770
TAF HelaGSE8489 53111402 53112770 1368 12770
TFAP2C MCF7GSE21234 53103242 53103672 430 4141
TFAP2C MCF7GSE21234 53112354 53113026 672 13374
p130 SenescentGSE19898 53108766 53108977 211 9555
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 53071366 53071668 302 3797
CTCF CD4SISSRdata 53071366 53071668 302 3797
CTCF G2GSE9613 53071074 53071319 245 4117
CTCF G2GSE9613 53073483 53074612 1129 1266
H3K27me3 colorectalcancer 53071879 53072261 382 3244
hScc1 BcellGSE12603 53071118 53071495 377 4007
hScc1 G2GSE9613 53074361 53074612 251 827
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 53079408 53079771 363 0
CTCF CD4GSE12889 53095326 53095500 174 0
CTCF CD4SISSRdata 53079408 53079771 363 0
CTCF CD4SISSRdata 53095326 53095500 174 0
CTCF HelaGSE12889 53079417 53079661 244 0
CTCF JurkatGSE12889 53079363 53079673 310 0
CTCF G2GSE9613 53075529 53075793 264 0
CTCF G2GSE9613 53078403 53078654 251 0
CTCF G2GSE9613 53079390 53080080 690 0
CTCF G2GSE9613 53081764 53082230 466 0
CTCF G2GSE9613 53083630 53085416 1786 0
CTCF G2GSE9613 53087716 53088143 427 0
CTCF G2GSE9613 53088794 53089163 369 0
CTCF G2GSE9613 53091792 53092639 847 0
CTCF G2GSE9613 53095725 53095904 179 0
CTCF G2GSE9613 53098091 53099401 1310 0
FOXA1 MCF7GSE15244 53083751 53084539 788 0
H3K27me3 colorectalcancer 53096893 53098019 1126 0
NRSF pAbJurkat 53091697 53092200 503 0
NRSF pAbJurkat 53095725 53095904 179 0
NRSF pAbJurkat 53097975 53099801 1826 0
RARG MCF7GSE15244 53083751 53084504 753 0
TAFII hESGSE17917 53079453 53079711 258 0
TFAP2C MCF7GSE21234 53083481 53083905 424 0
TFAP2C MCF7GSE21234 53095228 53095574 346 0
TFAP2C MCF7GSE21234 53099019 53099430 411 0
hScc1 BcellGSE12603 53079390 53079864 474 0
hScc1 BcellGSE12603 53084600 53085416 816 0
hScc1 BcellGSE12603 53098440 53099334 894 0
hScc1 CdLSGSE12603 53079390 53079828 438 0
hScc1 G2GSE9613 53079390 53080116 726 0
p130 shRbQuiescentGSE19898 53081279 53081720 441 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-17 hsa-mir-17 13 19460962
hsa-miR-17* hsa-mir-17 13 19460962
hsa-miR-31 hsa-mir-31 9 20530680
hsa-miR-31* hsa-mir-31 9 20530680
hsa-miR-92a hsa-mir-92a-1 13 19460962
hsa-miR-92a hsa-mir-92a-2 X 19460962
No data
Cis-Nats regulation Top

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