AutismKB 2.0

Annotation Detail for DNAH5


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Basic Information Top
Gene Symbol:DNAH5 ( CILD3,DNAHC5,FLJ46759,HL1,KIAA1603,KTGNR,PCD )
Gene Full Name: dynein, axonemal, heavy chain 5
Band: 5p15.2
Quick LinksEntrez ID:1767; OMIM: 603335; Uniprot ID:DYH5_HUMAN; ENSEMBL ID: ENSG00000039139; HGNC ID: 2950
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
163Phosphoserine (By similarity).
310N6-acetyllysine.
4345Phosphoserine.
4351Phosphothreonine.
4555Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
51N-linkedHMM predict
240Phosphotyrosine(INSR)HMM predict
240Phosphotyrosine(Syk)HMM predict
295Phosphoserine(PKA)HMM predict
306Phosphoserine(CDC2)HMM predict
389Phosphothreonine(PKC)HMM predict
415N-linkedHMM predict
537Phosphotyrosine(EGFR)HMM predict
894Phosphoserine(CK1)HMM predict
898Phosphoserine(CK1)HMM predict
909Phosphotyrosine(INSR)HMM predict
911N-linkedHMM predict
998Phosphoserine(IKK)HMM predict
1075Phosphoserine(CK1)HMM predict
1077Phosphoserine(ATM)HMM predict
1077Phosphoserine(CK1)HMM predict
1077Phosphoserine(CK2)HMM predict
1107Phosphotyrosine(Syk)HMM predict
1128N-linkedHMM predict
1189Phosphotyrosine(SRC)HMM predict
1346Phosphotyrosine(Syk)HMM predict
1557N-linkedHMM predict
1600Phosphotyrosine(Syk)HMM predict
1617N-linkedHMM predict
1667Phosphothreonine(PKC)HMM predict
1759Phosphotyrosine(EGFR)HMM predict
1764Phosphoserine(CK1)HMM predict
1767Phosphoserine(CK1)HMM predict
1767Phosphoserine(ATM)HMM predict
1796Phosphoserine(ATM)HMM predict
1798Phosphoserine(CK1)HMM predict
1799Phosphoserine(CK1)HMM predict
1879PhosphoserineHMM predict
2025Phosphoserine(ATM)HMM predict
2070N-linkedHMM predict
2074N-linkedHMM predict
2219Phosphotyrosine(EGFR)HMM predict
2227Phosphoserine(PKG)HMM predict
2356N-linkedHMM predict
2384N-linkedHMM predict
2417Phosphoserine(CDC2)HMM predict
2476Phosphoserine(ATM)HMM predict
2513Phosphothreonine(PKA)HMM predict
2532Phosphotyrosine(Jak)HMM predict
2532Phosphotyrosine(Syk)HMM predict
2532SulfotyrosineHMM predict
2539C-linkedHMM predict
2556Phosphothreonine(CDC2)HMM predict
2618N-linkedHMM predict
2644Phosphotyrosine(INSR)HMM predict
2728N-linkedHMM predict
2762Phosphoserine(PKG)HMM predict
2806N-linkedHMM predict
2807Phosphothreonine(CK2)HMM predict
2885Phosphothreonine(CK2)HMM predict
2897Phosphotyrosine(INSR)HMM predict
2897Phosphotyrosine(SRC)HMM predict
3022Phosphoserine(CK2)HMM predict
3026Phosphotyrosine(INSR)HMM predict
3089Phosphoserine(CDC2)HMM predict
3171Phosphothreonine(PKA)HMM predict
3174Phosphothreonine(CDK)HMM predict
3174Phosphothreonine(MAPK)HMM predict
3174Phosphothreonine(CDC2)HMM predict
3300Phosphothreonine(PKC)HMM predict
3335Phosphoserine(PKG)HMM predict
3514Phosphothreonine(PKC)HMM predict
3632PhosphotyrosineHMM predict
3640Phosphoserine(CK1)HMM predict
3642Phosphoserine(CK1)HMM predict
3816Phosphotyrosine(Syk)HMM predict
3861Phosphoserine(CDC2)HMM predict
3877Phosphotyrosine(Syk)HMM predict
3877Phosphotyrosine(SRC)HMM predict
3950Phosphoserine(CK1)HMM predict
4053Phosphoserine(ATM)HMM predict
4074Phosphoserine(CAMK2)HMM predict
4166Phosphoserine(IKK)HMM predict
4177Phosphoserine(CK1)HMM predict
4218N-linkedHMM predict
4308Phosphotyrosine(INSR)HMM predict
4405Phosphoserine(CK1)HMM predict
4573N-linkedHMM predict
4574N-linkedHMM predict
4608Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001369
  • Location:chr5 13745038-13997588
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 14009852 14010533 681 12604
CTCF G2GSE9613 14017320 14017572 252 19858
ER Fulvestrant-MCF7GSE14664 13999248 13999300 52 1686
FOXA1 MCF7GSE15244 13997690 13998666 976 590
Oct1 H2O2-HelaGSE14283 14013832 14013861 29 16258
Oct1 H2O2-HelaGSE14283 14016657 14016712 55 19096
Oct1 HelaGSE14283 14013833 14013864 31 16260
RARA MCF7GSE15244 13997807 13998525 718 578
TFAP2C MCF7GSE21234 13999224 14000034 810 2041
hScc1 G2GSE9613 14009599 14010599 1000 12511
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 13727122 13727151 29 17902
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 13757149 13757415 266 0
CTCF G2GSE9613 13778102 13778598 496 0
CTCF G2GSE9613 13811927 13812215 288 0
CTCF G2GSE9613 13836641 13837106 465 0
CTCF G2GSE9613 13875956 13876323 367 0
CTCF G2GSE9613 13884374 13884875 501 0
CTCF G2GSE9613 13889407 13889739 332 0
CTCF G2GSE9613 13963855 13964028 173 0
ER Fulvestrant-MCF7GSE14664 13749805 13749840 35 0
ER Fulvestrant-MCF7GSE14664 13880343 13880376 33 0
NRSF JurkatGSE13047 13919497 13920596 1099 0
NRSF JurkatSISSRdata 13919815 13920302 487 0
NRSF mAbJurkat 13851327 13851503 176 0
NRSF mAbJurkat 13895628 13898750 3122 0
NRSF mAbJurkat 13912097 13912496 399 0
NRSF mAbJurkat 13912740 13913317 577 0
NRSF mAbJurkat 13913907 13914757 850 0
NRSF mAbJurkat 13915091 13918090 2999 0
NRSF mAbJurkat 13918402 13920287 1885 0
NRSF mAbJurkat 13920741 13923187 2446 0
NRSF mAbJurkat 13923690 13925933 2243 0
NRSF mAbJurkat 13926954 13927502 548 0
NRSF-mono JurkatQuESTdata 13919634 13920521 887 0
NRSF-mono JurkatQuESTdata 13921738 13921938 200 0
NRSF-mono JurkatQuESTdata 13922115 13922418 303 0
NRSF pAbJurkat 13916167 13918090 1923 0
NRSF pAbJurkat 13919520 13920287 767 0
NRSF pAbJurkat 13920741 13921937 1196 0
NRSF-poly JurkatQuESTdata 13919761 13920543 782 0
Oct1 H2O2-HelaGSE14283 13905762 13905805 43 0
Oct1 HelaGSE14283 13749804 13749849 45 0
Oct1 HelaGSE14283 13814731 13814762 31 0
Oct1 HelaGSE14283 13880342 13880375 33 0
Oct1 HelaGSE14283 13905766 13905805 39 0
Oct1 HelaGSE14283 13975627 13975665 38 0
Oct1 HelaGSE14283 13990978 13991009 31 0
Stat6 IL-4-hr4GSE17850 13985468 13986050 582 0
TFAP2C MCF7GSE21234 13793636 13793939 303 0
hScc1 G2GSE9613 13883744 13884875 1131 0
p63 keratinocytesGSE17611 13985366 13986371 1005 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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