AutismKB 2.0

Annotation Detail for PKD1


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Basic Information Top
Gene Symbol:PKD1 ( PBP,Pc-1,TRPP1 )
Gene Full Name: polycystic kidney disease 1 (autosomal dominant)
Band: 16p13.3
Quick LinksEntrez ID:5310; OMIM: 601313; Uniprot ID:PKD1_HUMAN; ENSEMBL ID: ENSG00000008710; HGNC ID: 9008
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
50N-linked (GlcNAc...) (Potential).
89N-linked (GlcNAc...) (Potential).
116N-linked (GlcNAc...) (Potential).
121N-linked (GlcNAc...) (Potential).
187N-linked (GlcNAc...) (Potential).
621N-linked (GlcNAc...) (Potential).
632N-linked (GlcNAc...) (Potential).
746N-linked (GlcNAc...) (Potential).
810N-linked (GlcNAc...) (Potential).
841N-linked (GlcNAc...) (Potential).
854N-linked (GlcNAc...) (Potential).
890N-linked (GlcNAc...) (Potential).
921N-linked (GlcNAc...) (Potential).
1004N-linked (GlcNAc...) (Potential).
1010N-linked (GlcNAc...) (Potential).
1034N-linked (GlcNAc...) (Potential).
1072N-linked (GlcNAc...) (Potential).
1113N-linked (GlcNAc...) (Potential).
1178N-linked (GlcNAc...) (Potential).
1194N-linked (GlcNAc...) (Potential).
1240N-linked (GlcNAc...) (Potential).
1269N-linked (GlcNAc...) (Potential).
1336N-linked (GlcNAc...) (Potential).
1348N-linked (GlcNAc...) (Potential).
1382N-linked (GlcNAc...) (Potential).
1450N-linked (GlcNAc...) (Potential).
1455N-linked (GlcNAc...) (Potential).
1474N-linked (GlcNAc...) (Potential).
1518N-linked (GlcNAc...) (Potential).
1541N-linked (GlcNAc...) (Potential).
1554N-linked (GlcNAc...) (Potential).
1563N-linked (GlcNAc...) (Potential).
1647N-linked (GlcNAc...) (Potential).
1661N-linked (GlcNAc...) (Potential).
1733N-linked (GlcNAc...) (Potential).
1791N-linked (GlcNAc...) (Potential).
1834N-linked (GlcNAc...) (Potential).
1867N-linked (GlcNAc...) (Potential).
1880N-linked (GlcNAc...) (Potential).
1991N-linked (GlcNAc...) (Potential).
2050N-linked (GlcNAc...) (Potential).
2074N-linked (GlcNAc...) (Potential).
2125N-linked (GlcNAc...) (Potential).
2248N-linked (GlcNAc...) (Potential).
2353N-linked (GlcNAc...) (Potential).
2395N-linked (GlcNAc...) (Potential).
2412N-linked (GlcNAc...) (Potential).
2567N-linked (GlcNAc...) (Potential).
2578N-linked (GlcNAc...) (Potential).
2645N-linked (GlcNAc...) (Potential).
2718N-linked (GlcNAc...) (Potential).
2754N-linked (GlcNAc...) (Potential).
2841N-linked (GlcNAc...) (Potential).
2878N-linked (GlcNAc...) (Potential).
2925N-linked (GlcNAc...) (Potential).
2956N-linked (GlcNAc...) (Potential).
2994N-linked (GlcNAc...) (Potential).
3738N-linked (GlcNAc...) (Potential).
3756Polycystin motif.
3790N-linked (GlcNAc...) (Potential).
3845N-linked (GlcNAc...) (Potential).
4288Phosphoserine.
Location(AA) Modifications Resource
50N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
89N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
116N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
121N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
187N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
621N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
632N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
746N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
810N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
841N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
854N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
890N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
921N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1004N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1010N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1034N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1072N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1113N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1178N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1194N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1240N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1269N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1336N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1348N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1382N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1450N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1455N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1474N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1518N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1541N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1554N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1563N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1647N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1661N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1733N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1791N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1834N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1867N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1880N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1991N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2050N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2074N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2125N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2248N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2353N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2395N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2412N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2567N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2578N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2645N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2718N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2754N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2841N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2878N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2925N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2956N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2994N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3738N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3790N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3845N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4288Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
28MethylarginineHMM predict
50N-linkedHMM predict
105Phosphothreonine(PKC)HMM predict
116N-linkedHMM predict
121N-linkedHMM predict
125N-linkedHMM predict
160Phosphoserine(IKK)HMM predict
187N-linkedHMM predict
191Phosphothreonine(PKC)HMM predict
238O-linkedHMM predict
249O-linkedHMM predict
249Phosphoserine(ATM)HMM predict
272Phosphoserine(CDC2)HMM predict
461Phosphothreonine(PKA)HMM predict
558Phosphothreonine(MAPK)HMM predict
618Phosphothreonine(CDC2)HMM predict
618Phosphothreonine(MAPK)HMM predict
621N-linkedHMM predict
623Phosphoserine(CK1)HMM predict
629Phosphoserine(CDC2)HMM predict
632N-linkedHMM predict
671O-linkedHMM predict
730Phosphoserine(ATM)HMM predict
746N-linkedHMM predict
764S-palmitoylHMM predict
767S-palmitoylHMM predict
841N-linkedHMM predict
854N-linkedHMM predict
890N-linkedHMM predict
938O-linkedHMM predict
938Phosphothreonine(MAPK)HMM predict
940Phosphoserine(CDC2)HMM predict
1003O-linkedHMM predict
1004N-linkedHMM predict
1008N-linkedHMM predict
1010N-linkedHMM predict
1034N-linkedHMM predict
1072N-linkedHMM predict
1113N-linkedHMM predict
1125Phosphoserine(PKG)HMM predict
1125Phosphoserine(IKK)HMM predict
1153Phosphoserine(CDC2)HMM predict
1173Phosphoserine(ATM)HMM predict
1178N-linkedHMM predict
1194N-linkedHMM predict
1195N-linkedHMM predict
1198O-linkedHMM predict
1232O-linkedHMM predict
1240N-linkedHMM predict
1259Phosphothreonine(PKC)HMM predict
1269N-linkedHMM predict
1278Phosphoserine(CDC2)HMM predict
1336N-linkedHMM predict
1338O-linkedHMM predict
1348N-linkedHMM predict
1382N-linkedHMM predict
1424Phosphothreonine(PKC)HMM predict
1444O-linkedHMM predict
1446O-linkedHMM predict
1450N-linkedHMM predict
1455N-linkedHMM predict
1518N-linkedHMM predict
1541N-linkedHMM predict
1554N-linkedHMM predict
1558Phosphothreonine(PKC)HMM predict
1563N-linkedHMM predict
1647N-linkedHMM predict
1661N-linkedHMM predict
1666C-linkedHMM predict
1726Phosphoserine(CDK)HMM predict
1733N-linkedHMM predict
1763O-linkedHMM predict
1770Phosphoserine(IKK)HMM predict
1791N-linkedHMM predict
1834N-linkedHMM predict
1845Phosphoserine(PKC)HMM predict
1867N-linkedHMM predict
1870N-linkedHMM predict
1880N-linkedHMM predict
1991N-linkedHMM predict
2050N-linkedHMM predict
2084Phosphoserine(CDC2)HMM predict
2084Phosphoserine(MAPK)HMM predict
2084Phosphoserine(CDK)HMM predict
2084Phosphoserine(CDK)HMM predict
2084PhosphoserineHMM predict
2086O-linkedHMM predict
2086Phosphoserine(CDC2)HMM predict
2164Phosphoserine(PKG)HMM predict
2248N-linkedHMM predict
2292Phosphothreonine(MAPK)HMM predict
2353N-linkedHMM predict
2412N-linkedHMM predict
2466Phosphoserine(CDC2)HMM predict
2466Phosphoserine(CDK)HMM predict
2578N-linkedHMM predict
2580O-linkedHMM predict
2645N-linkedHMM predict
2706O-linkedHMM predict
2708O-linkedHMM predict
2708Phosphothreonine(MAPK)HMM predict
2710O-linkedHMM predict
2718N-linkedHMM predict
2743Phosphoserine(CDC2)HMM predict
2754N-linkedHMM predict
2841N-linkedHMM predict
2850Phosphoserine(CAMK2)HMM predict
2878N-linkedHMM predict
2879N-linkedHMM predict
2910Phosphothreonine(PKC)HMM predict
2925N-linkedHMM predict
2941Phosphotyrosine(Syk)HMM predict
2956N-linkedHMM predict
2981Phosphoserine(CDC2)HMM predict
2994N-linkedHMM predict
3075SulfotyrosineHMM predict
3088Phosphotyrosine(INSR)HMM predict
3134Phosphothreonine(PKC)HMM predict
3149Phosphoserine(CK1)HMM predict
3276Phosphothreonine(PKA)HMM predict
3316Phosphoserine(CDC2)HMM predict
3316Phosphoserine(MAPK)HMM predict
3329O-linkedHMM predict
3347Phosphoserine(PKA)HMM predict
3354O-linkedHMM predict
3354Phosphoserine(CDC2)HMM predict
3354Phosphoserine(IKK)HMM predict
3356O-linkedHMM predict
3356Phosphoserine(CDC2)HMM predict
3356Phosphoserine(CDK)HMM predict
3358O-linkedHMM predict
3358PhosphothreonineHMM predict
3425Phosphoserine(CK1)HMM predict
3457Phosphoserine(CDC2)HMM predict
3457Phosphoserine(MAPK)HMM predict
3460Phosphoserine(CDC2)HMM predict
3460Phosphoserine(IKK)HMM predict
3482O-linkedHMM predict
3483Phosphoserine(CDC2)HMM predict
3483Phosphoserine(CDK)HMM predict
3502Phosphoserine(CK1)HMM predict
3503Phosphothreonine(MAPK)HMM predict
3523Phosphoserine(CDC2)HMM predict
3523Phosphoserine(MAPK)HMM predict
3595Phosphoserine(IKK)HMM predict
3637Phosphothreonine(MAPK)HMM predict
3637Phosphothreonine(CDK)HMM predict
3738N-linkedHMM predict
3790N-linkedHMM predict
3845N-linkedHMM predict
3868Phosphothreonine(PKC)HMM predict
3894Phosphoserine(PKG)HMM predict
3906S-palmitoylHMM predict
3975Phosphothreonine(PKA)HMM predict
3976Phosphoserine(IKK)HMM predict
3976Phosphoserine(PKB)HMM predict
4072O-linkedHMM predict
4127Phosphotyrosine(EGFR)HMM predict
4127Phosphotyrosine(SRC)HMM predict
4127Phosphotyrosine(Syk)HMM predict
4166O-linkedHMM predict
4169Phosphoserine(IKK)HMM predict
4179O-linkedHMM predict
4182O-linkedHMM predict
4190O-linkedHMM predict
4190Phosphoserine(CK1)HMM predict
4192Phosphoserine(ATM)HMM predict
4237Phosphotyrosine(SRC)HMM predict
4251Phosphoserine(PKC)HMM predict
4252Phosphoserine(PKG)HMM predict
4258O-linkedHMM predict
4259O-linkedHMM predict
4290Phosphothreonine(CDC2)HMM predict
4290Phosphothreonine(MAPK)HMM predict
4290Phosphothreonine(CDK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000296
  • Location:chr16 2078711-2125899
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 2130696 2130934 238 4916
CTCF CD4SISSRdata 2130696 2130934 238 4916
CTCF JurkatGSE12889 2130702 2130867 165 4885
Myc K562GSE19551 2126073 2126459 386 367
PolII HeLaGSE12783 2125076 2126989 1913 133
hScc1 BcellGSE12603 2126137 2126396 259 367
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 2079396 2079786 390 0
CTCF G2GSE9613 2080344 2081757 1413 0
CTCF G2GSE9613 2083109 2083574 465 0
CTCF G2GSE9613 2085438 2085685 247 0
CTCF G2GSE9613 2087455 2088043 588 0
CTCF G2GSE9613 2089717 2089974 257 0
CTCF G2GSE9613 2092189 2092695 506 0
CTCF G2GSE9613 2095740 2096657 917 0
CTCF G2GSE9613 2097171 2097498 327 0
CTCF G2GSE9613 2098104 2098959 855 0
CTCF G2GSE9613 2099290 2099656 366 0
CTCF G2GSE9613 2100629 2102251 1622 0
CTCF G2GSE9613 2102858 2103004 146 0
CTCF G2GSE9613 2103723 2105230 1507 0
CTCF G2GSE9613 2105711 2105938 227 0
CTCF G2GSE9613 2106603 2106905 302 0
CTCF G2GSE9613 2107774 2108906 1132 0
CTCF G2GSE9613 2109175 2109890 715 0
CTCF G2GSE9613 2111662 2112140 478 0
CTCF G2GSE9613 2112833 2113252 419 0
CTCF G2GSE9613 2113995 2114312 317 0
CTCF G2GSE9613 2114768 2115109 341 0
CTCF G2GSE9613 2115427 2115775 348 0
CTCF G2GSE9613 2116459 2116686 227 0
CTCF G2GSE9613 2117110 2117581 471 0
CTCF G2GSE9613 2123107 2123885 778 0
CTCF G2GSE9613 2125362 2125804 442 0
GABP k562GSE8489 2110243 2110413 170 0
H3K4me2 HCT116GSE10453 2124261 2125053 792 0
H3K4me3 colorectalcancer 2124412 2124799 387 0
H3ac HepG2E 2123107 2125257 2150 0
NRSF pAbJurkat 2101307 2102064 757 0
NRSF pAbJurkat 2106303 2106829 526 0
NRSF pAbJurkat 2111737 2112072 335 0
PHF8 HeLaGSE20725 2125072 2126036 964 0
TFAP2C MCF7GSE21234 2078733 2079271 538 0
TFAP2C MCF7GSE21234 2106888 2107201 313 0
hScc1 BcellGSE12603 2082215 2082928 713 0
hScc1 BcellGSE12603 2087383 2088043 660 0
hScc1 BcellGSE12603 2089890 2090371 481 0
hScc1 BcellGSE12603 2092628 2093482 854 0
hScc1 BcellGSE12603 2096015 2096434 419 0
hScc1 BcellGSE12603 2098104 2098468 364 0
hScc1 BcellGSE12603 2099181 2100908 1727 0
hScc1 BcellGSE12603 2105643 2106105 462 0
hScc1 BcellGSE12603 2106441 2106905 464 0
hScc1 BcellGSE12603 2108358 2108906 548 0
hScc1 BcellGSE12603 2109202 2109890 688 0
hScc1 BcellGSE12603 2124515 2125763 1248 0
hScc1 CdLSGSE12603 2109669 2109890 221 0
hScc1 CdLSGSE12603 2111472 2111737 265 0
hScc1 CdLSGSE12603 2125224 2126396 1172 0
hScc1 G2GSE9613 2109175 2109890 715 0
p130 SenescentGSE19898 2096988 2097270 282 0
p63 keratinocytesGSE17611 2078525 2079522 997 0
p63 keratinocytesGSE17611 2119689 2120323 634 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-17 hsa-mir-17 13 19821056
hsa-miR-17* hsa-mir-17 13 19821056
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
9473 EST chr16 2081437 2085019 221 mRNA PKD1 chr16 2078711 2125900Sense/Antisense (SA) 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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