AutismKB 2.0

Annotation Detail for PKHD1


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Basic Information Top
Gene Symbol:PKHD1 ( ARPKD,DKFZp686C01112,FCYT,FLJ46150,TIGM1 )
Gene Full Name: polycystic kidney and hepatic disease 1 (autosomal recessive)
Band: 6p12.3-p12.2
Quick LinksEntrez ID:5314; OMIM: 606702; Uniprot ID:PKHD1_HUMAN; ENSEMBL ID: ENSG00000170927; HGNC ID: 9016
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
54N-linked (GlcNAc...) (Potential).
226N-linked (GlcNAc...) (Potential).
276N-linked (GlcNAc...) (Potential).
357N-linked (GlcNAc...) (Potential).
387N-linked (GlcNAc...) (Potential).
507N-linked (GlcNAc...) (Potential).
520N-linked (GlcNAc...) (Potential).
529N-linked (GlcNAc...) (Potential).
641N-linked (GlcNAc...) (Potential).
711N-linked (GlcNAc...) (Potential).
830N-linked (GlcNAc...) (Potential).
869N-linked (GlcNAc...) (Potential).
967N-linked (GlcNAc...) (Potential).
977N-linked (GlcNAc...) (Potential).
1065N-linked (GlcNAc...) (Potential).
1084N-linked (GlcNAc...) (Potential).
1116N-linked (GlcNAc...) (Potential).
1135N-linked (GlcNAc...) (Potential).
1234N-linked (GlcNAc...) (Potential).
1241N-linked (GlcNAc...) (Potential).
1312N-linked (GlcNAc...) (Potential).
1323N-linked (GlcNAc...) (Potential).
1346N-linked (GlcNAc...) (Potential).
1377N-linked (GlcNAc...) (Potential).
1460N-linked (GlcNAc...) (Potential).
1475N-linked (GlcNAc...) (Potential).
1494N-linked (GlcNAc...) (Potential).
1527N-linked (GlcNAc...) (Potential).
1532N-linked (GlcNAc...) (Potential).
1564N-linked (GlcNAc...) (Potential).
1582N-linked (GlcNAc...) (Potential).
1602N-linked (GlcNAc...) (Potential).
1631N-linked (GlcNAc...) (Potential).
1698N-linked (GlcNAc...) (Potential).
1764N-linked (GlcNAc...) (Potential).
1779N-linked (GlcNAc...) (Potential).
1879N-linked (GlcNAc...) (Potential).
1883N-linked (GlcNAc...) (Potential).
1919N-linked (GlcNAc...) (Potential).
1945N-linked (GlcNAc...) (Potential).
1959N-linked (GlcNAc...) (Potential).
2034N-linked (GlcNAc...) (Potential).
2115N-linked (GlcNAc...) (Potential).
2144N-linked (GlcNAc...) (Potential).
2350N-linked (GlcNAc...) (Potential).
2385N-linked (GlcNAc...) (Potential).
2435N-linked (GlcNAc...) (Potential).
2471N-linked (GlcNAc...) (Potential).
2509N-linked (GlcNAc...) (Potential).
2535N-linked (GlcNAc...) (Potential).
2553N-linked (GlcNAc...) (Potential).
2595N-linked (GlcNAc...) (Potential).
2633N-linked (GlcNAc...) (Potential).
2753N-linked (GlcNAc...) (Potential).
2768N-linked (GlcNAc...) (Potential).
3008N-linked (GlcNAc...) (Potential).
3140N-linked (GlcNAc...) (Potential).
3169N-linked (GlcNAc...) (Potential).
3225N-linked (GlcNAc...) (Potential).
3488N-linked (GlcNAc...) (Potential).
3528N-linked (GlcNAc...) (Potential).
3707N-linked (GlcNAc...) (Potential).
3726N-linked (GlcNAc...) (Potential).
3838N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
54N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
226N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
276N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
357N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
387N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
507N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
520N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
529N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
641N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
711N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
830N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
869N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
967N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
977N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1065N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1084N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1116N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1135N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1234N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1241N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1312N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1323N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1346N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1377N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1460N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1475N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1494N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1527N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1532N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1564N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1582N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1602N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1631N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1698N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1764N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1779N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1879N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1883N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1919N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1945N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1959N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2034N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2115N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2144N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2350N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2385N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2435N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2471N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2509N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2535N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2553N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2595N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2633N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2753N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2768N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3008N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3140N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3169N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3225N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3488N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3528N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3707N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3726N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3838N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
54N-linkedHMM predict
118Phosphoserine(CDC2)HMM predict
118Phosphoserine(CDK)HMM predict
136Phosphothreonine(CDC2)HMM predict
136Phosphothreonine(MAPK)HMM predict
173Phosphotyrosine(EGFR)HMM predict
173Phosphotyrosine(Jak)HMM predict
224Phosphoserine(ATM)HMM predict
276N-linkedHMM predict
357N-linkedHMM predict
387N-linkedHMM predict
388SulfotyrosineHMM predict
396Phosphoserine(IKK)HMM predict
416O-linkedHMM predict
507N-linkedHMM predict
513N-linkedHMM predict
520N-linkedHMM predict
523Phosphoserine(ATM)HMM predict
529N-linkedHMM predict
641N-linkedHMM predict
711N-linkedHMM predict
715Phosphoserine(IKK)HMM predict
741Phosphotyrosine(SRC)HMM predict
741Phosphotyrosine(Abl)HMM predict
784Phosphothreonine(PKA)HMM predict
830N-linkedHMM predict
841Phosphotyrosine(INSR)HMM predict
869N-linkedHMM predict
874N-linkedHMM predict
920Phosphoserine(CDK)HMM predict
967N-linkedHMM predict
977N-linkedHMM predict
980N-linkedHMM predict
1065N-linkedHMM predict
1084N-linkedHMM predict
1101Phosphothreonine(PKC)HMM predict
1112Phosphothreonine(CDK)HMM predict
1135N-linkedHMM predict
1204S-palmitoylHMM predict
1205S-palmitoylHMM predict
1241N-linkedHMM predict
1264Phosphothreonine(PKC)HMM predict
1300Phosphothreonine(MAPK)HMM predict
1300PhosphothreonineHMM predict
1312N-linkedHMM predict
1316Phosphoserine(CK1)HMM predict
1323N-linkedHMM predict
1326N-linkedHMM predict
1346N-linkedHMM predict
1350Phosphoserine(CK2)HMM predict
1400Phosphoserine(IKK)HMM predict
1420Phosphoserine(PKC)HMM predict
1420Phosphoserine(PKG)HMM predict
1460N-linkedHMM predict
1466N-linkedHMM predict
1475N-linkedHMM predict
1494N-linkedHMM predict
1496O-linkedHMM predict
1498O-linkedHMM predict
1498O-linkedHMM predict
1498Phosphoserine(PKA)HMM predict
1527N-linkedHMM predict
1532N-linkedHMM predict
1559Phosphotyrosine(INSR)HMM predict
1562Phosphoserine(ATM)HMM predict
1564N-linkedHMM predict
1582N-linkedHMM predict
1602N-linkedHMM predict
1664Phosphoserine(CK2)HMM predict
1664Phosphoserine(ATM)HMM predict
1698N-linkedHMM predict
1764N-linkedHMM predict
1779N-linkedHMM predict
1808PhosphoserineHMM predict
1816Phosphotyrosine(Jak)HMM predict
1883N-linkedHMM predict
1919N-linkedHMM predict
1945N-linkedHMM predict
1950N-linkedHMM predict
2034N-linkedHMM predict
2115N-linkedHMM predict
2119N-linkedHMM predict
2144N-linkedHMM predict
2147N-linkedHMM predict
2245Phosphoserine(IKK)HMM predict
2350N-linkedHMM predict
2385N-linkedHMM predict
2435N-linkedHMM predict
2471N-linkedHMM predict
2476N-linkedHMM predict
2492Phosphoserine(ATM)HMM predict
2503Phosphoserine(PKG)HMM predict
2586SulfotyrosineHMM predict
2595N-linkedHMM predict
2601N-linkedHMM predict
2681Phosphoserine(CDC2)HMM predict
2724O-linkedHMM predict
2724O-linkedHMM predict
2727O-linkedHMM predict
2728Phosphoserine(IKK)HMM predict
2737Phosphoserine(IKK)HMM predict
2753N-linkedHMM predict
2754N-linkedHMM predict
2768N-linkedHMM predict
2796Phosphoserine(IKK)HMM predict
2903Phosphotyrosine(INSR)HMM predict
2912Phosphothreonine(PKC)HMM predict
2978Phosphoserine(PKG)HMM predict
2998Phosphoserine(CDK)HMM predict
3001Phosphotyrosine(INSR)HMM predict
3001Phosphotyrosine(SRC)HMM predict
3008N-linkedHMM predict
3013O-linkedHMM predict
3058Phosphotyrosine(Abl)HMM predict
3140N-linkedHMM predict
3169N-linkedHMM predict
3175N-linkedHMM predict
3225N-linkedHMM predict
3234PhosphoserineHMM predict
3237MethylarginineHMM predict
3451O-linkedHMM predict
3452O-linkedHMM predict
3488N-linkedHMM predict
3650Phosphoserine(CAMK2)HMM predict
3669Phosphoserine(CDC2)HMM predict
3671Phosphothreonine(PKC)HMM predict
3726N-linkedHMM predict
3737Phosphotyrosine(INSR)HMM predict
3810Phosphotyrosine(EGFR)HMM predict
3810Phosphotyrosine(INSR)HMM predict
3833Phosphoserine(CDC2)HMM predict
3838N-linkedHMM predict
3870O-linkedHMM predict
3879S-palmitoylHMM predict
3880S-palmitoylHMM predict
3916Phosphoserine(PKG)HMM predict
3916Phosphoserine(ATM)HMM predict
3956Phosphoserine(PKG)HMM predict
3973O-linkedHMM predict
4038Phosphoserine(CK1)HMM predict
4043Phosphoserine(IKK)HMM predict
4047Phosphoserine(ATM)HMM predict
4064SerineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_138694
  • Location:chr6 51588103-52060381
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 51583027 51583059 32 5061
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 51693257 51693301 44 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-15a hsa-mir-15a 13 18949060
hsa-miR-15a hsa-mir-15a 13 18949056
hsa-miR-15a* hsa-mir-15a 13 18949060
hsa-miR-15a* hsa-mir-15a 13 18949056
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
22704 EST chr6 51578021 51595592 7489 mRNA PKHD1 chr6 51588103 52060382 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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