AutismKB 2.0

Annotation Detail for DIAPH1


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Basic Information Top
Gene Symbol:DIAPH1 ( DFNA1,DIA1,DRF1,FLJ25265,LFHL1,hDIA1 )
Gene Full Name: diaphanous homolog 1 (Drosophila)
Band: 5q31.3
Quick LinksEntrez ID:1729; OMIM: 602121; Uniprot ID:DIAP1_HUMAN; ENSEMBL ID: ENSG00000131504; HGNC ID: 2876
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
22Phosphoserine.
1057N6-acetyllysine.
1103N6-acetyllysine.
1121Phosphotyrosine (By similarity).
Location(AA) Modifications Resource
Location(AA) Modification Resource
14Phosphothreonine(PKC)HMM predict
45Phosphoserine(PKB)HMM predict
61N-linkedHMM predict
128Phosphoserine(ATM)HMM predict
133Phosphoserine(CK1)HMM predict
395Phosphoserine(PKG)HMM predict
415Phosphotyrosine(Syk)HMM predict
498Phosphoserine(CK2)HMM predict
523Phosphothreonine(CK2)HMM predict
533Phosphoserine(ATM)HMM predict
569O-linkedHMM predict
597O-linkedHMM predict
598O-linkedHMM predict
598Phosphothreonine(CDC2)HMM predict
616O-linkedHMM predict
619Phosphoserine(ATM)HMM predict
619Phosphoserine(CDC2)HMM predict
619O-linkedHMM predict
619Phosphoserine(CDK)HMM predict
629O-linkedHMM predict
644Phosphoserine(MAPK)HMM predict
644Phosphoserine(CDC2)HMM predict
646O-linkedHMM predict
647Phosphoserine(IKK)HMM predict
652O-linkedHMM predict
663O-linkedHMM predict
676O-linkedHMM predict
772Phosphoserine(ATM)HMM predict
802Phosphothreonine(PKC)HMM predict
890Phosphotyrosine(Syk)HMM predict
890SulfotyrosineHMM predict
986Phosphothreonine(PKA)HMM predict
1106Phosphoserine(PKA)HMM predict
1106Phosphoserine(PKG)HMM predict
1134Phosphothreonine(PKC)HMM predict
1214Phosphothreonine(CK2)HMM predict
1227Phosphoserine(PKG)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005219
  • Location:chr5 140874772-140978690
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 140978888 140979130 242 319
CTCF CD4SISSRdata 140978888 140979130 242 319
CTCF G2GSE9613 140978298 140979347 1049 132
ETS1 JurkatGSE17954 140978550 140979440 890 305
Myc hESGSE17917 140978877 140979092 215 294
Rb QuiescentGSE19898 140978664 140979077 413 180
Rb SenescentGSE19898 140978741 140979083 342 222
USF2 HepG2E 140979089 140979347 258 528
hScc1 BcellGSE12603 140978527 140979347 820 247
hScc1 CdLSGSE12603 140978376 140979347 971 171
p130 SenescentGSE19898 140978778 140978996 218 197
p130 shRbSenescentGSE19898 140978719 140979091 372 215
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 140880611 140881697 1086 0
CTCF CD4GSE12889 140884414 140884841 427 0
CTCF CD4GSE12889 140923894 140924324 430 0
CTCF CD4GSE12889 140951833 140952166 333 0
CTCF CD4SISSRdata 140884414 140884841 427 0
CTCF CD4SISSRdata 140923894 140924324 430 0
CTCF CD4SISSRdata 140951833 140952166 333 0
CTCF HelaGSE12889 140951825 140952130 305 0
CTCF JurkatGSE12889 140884501 140884873 372 0
CTCF G2GSE9613 140875947 140876668 721 0
CTCF G2GSE9613 140884151 140885593 1442 0
CTCF G2GSE9613 140917174 140917966 792 0
CTCF G2GSE9613 140920613 140921008 395 0
CTCF G2GSE9613 140923686 140924370 684 0
CTCF G2GSE9613 140927275 140927457 182 0
CTCF G2GSE9613 140951872 140952126 254 0
ER E2-MCF7GSE14664 140901192 140901285 93 0
ER E2-MCF7GSE14664 140969444 140969479 35 0
ER Fulvestrant-MCF7GSE14664 140875942 140875989 47 0
FOXA1 MCF7GSE15244 140880964 140881818 854 0
Fos K562GSE19551 140880857 140881404 547 0
GABP k562GSE8489 140975512 140978272 2760 0
H3K4me3 colorectalcancer 140976822 140978272 1450 0
H3ac HepG2E 140977274 140978338 1064 0
Myc K562GSE19551 140917690 140917878 188 0
Myc K562GSE19551 140923967 140924322 355 0
Myc K562GSE19551 140951845 140952152 307 0
Myc K562GSE19551 140977811 140979401 1590 0
NRSF mAbJurkat 140972582 140973244 662 0
NRSF mAbJurkat 140975512 140977197 1685 0
NRSF mAbJurkat 140977443 140977923 480 0
Oct1 H2O2-HelaGSE14283 140925435 140925465 30 0
Oct1 HelaGSE14283 140883497 140883528 31 0
Oct1 HelaGSE14283 140905755 140905799 44 0
Oct1 HelaGSE14283 140913934 140913964 30 0
Oct1 HelaGSE14283 140925433 140925470 37 0
Oct4 hESGSE17917 140923979 140924424 445 0
P300 T0-glioblastomaGSE21026 140880478 140881793 1315 0
P300 T30-glioblastomaGSE21026 140880716 140882432 1716 0
P300 T30-glioblastomaGSE21026 140917024 140918246 1222 0
P300 T30-glioblastomaGSE21026 140923647 140924691 1044 0
PHF8 293TGSE20725 140978181 140979009 828 0
PHF8 HeLaGSE20725 140977977 140979220 1243 0
RARA MCF7GSE15244 140880964 140881524 560 0
Rb shRbSenescenceGSE19898 140920654 140920878 224 0
STAT1 HeLaGSE12782 140920082 140921134 1052 0
STAT1 HeLaGSE12783 140920202 140921100 898 0
STAT1 HeLaGSE12783 140923632 140924685 1053 0
STAT1 IFNSISSRdata 140920286 140921224 938 0
TAF HelaGSE8489 140975512 140978272 2760 0
TAF k562GSE8489 140975512 140978200 2688 0
hScc1 BcellGSE12603 140883857 140885293 1436 0
hScc1 BcellGSE12603 140917236 140917926 690 0
hScc1 BcellGSE12603 140920540 140920972 432 0
hScc1 BcellGSE12603 140951872 140952159 287 0
hScc1 CdLSGSE12603 140884217 140885258 1041 0
hScc1 CdLSGSE12603 140917467 140918045 578 0
hScc1 CdLSGSE12603 140920540 140920936 396 0
hScc1 CdLSGSE12603 140923948 140924295 347 0
hScc1 CdLSGSE12603 140951872 140952278 406 0
hScc1 G2GSE9613 140917174 140917966 792 0
hScc1 G2GSE9613 140920586 140921079 493 0
hScc1 G2GSE9613 140951872 140952126 254 0
p130 QuiescentGSE19898 140920004 140920175 171 0
p130 QuiescentGSE19898 140920504 140920749 245 0
p130 SenescentGSE19898 140917244 140917830 586 0
p130 SenescentGSE19898 140920494 140920796 302 0
p130 shRbQuiescentGSE19898 140918018 140918494 476 0
Validated miRNA targets Top
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


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