AutismKB 2.0

Annotation Detail for NPHP4


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Basic Information Top
Gene Symbol:NPHP4 ( FLJ46306,KIAA0673,POC10,SLSN4 )
Gene Full Name: nephronophthisis 4
Band: 1p36.31
Quick LinksEntrez ID:261734; OMIM: 607215; Uniprot ID:NPHP4_HUMAN; ENSEMBL ID: ENSG00000131697; HGNC ID: 19104
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
82Phosphothreonine(PKC)HMM predict
125Phosphothreonine(PKC)HMM predict
142Phosphoserine(CDC2)HMM predict
182N-linkedHMM predict
319Phosphoserine(CAMK2)HMM predict
319Phosphoserine(PKA)HMM predict
321O-linkedHMM predict
328Phosphoserine(CK1)HMM predict
330O-linkedHMM predict
331Phosphoserine(CK1)HMM predict
332Phosphoserine(CK1)HMM predict
366Phosphoserine(CDC2)HMM predict
378O-linkedHMM predict
379O-linkedHMM predict
379Phosphoserine(CK1)HMM predict
416N-linkedHMM predict
429Phosphoserine(MAPK)HMM predict
431PhosphoserineHMM predict
431Phosphoserine(CK1)HMM predict
442Phosphothreonine(PKC)HMM predict
463O-linkedHMM predict
472Phosphoserine(PKG)HMM predict
477O-linkedHMM predict
477O-linkedHMM predict
478Phosphoserine(ATM)HMM predict
478O-linkedHMM predict
478Phosphoserine(CDC2)HMM predict
478Phosphoserine(MAPK)HMM predict
478Phosphoserine(IKK)HMM predict
480O-linkedHMM predict
481Phosphoserine(ATM)HMM predict
481Phosphoserine(IKK)HMM predict
496Phosphoserine(CDC2)HMM predict
505Phosphoserine(ATM)HMM predict
510Phosphoserine(CDK)HMM predict
510Phosphoserine(MAPK)HMM predict
510O-linkedHMM predict
510Phosphoserine(CDC2)HMM predict
513Phosphoserine(IKK)HMM predict
515Phosphothreonine(PKA)HMM predict
524Phosphoserine(ATM)HMM predict
530O-linkedHMM predict
530Phosphoserine(ATM)HMM predict
533Phosphoserine(CAMK2)HMM predict
554Phosphoserine(IKK)HMM predict
554Phosphoserine(ATM)HMM predict
589O-linkedHMM predict
621O-linkedHMM predict
635Phosphoserine(CK2)HMM predict
680Phosphothreonine(CDK)HMM predict
696Phosphoserine(IKK)HMM predict
868Phosphoserine(PKC)HMM predict
908Phosphoserine(CK2)HMM predict
911Phosphothreonine(PKC)HMM predict
936Phosphothreonine(PKA)HMM predict
937Phosphoserine(PKA)HMM predict
937Phosphoserine(IKK)HMM predict
969Phosphoserine(MAPK)HMM predict
1034Phosphothreonine(MAPK)HMM predict
1257Phosphothreonine(PKC)HMM predict
1322S-palmitoylHMM predict
1324S-palmitoylHMM predict
1325S-palmitoylHMM predict
1352Phosphotyrosine(INSR)HMM predict
1396Phosphoserine(ATM)HMM predict
1407SulfotyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015102
  • Location:chr1 5845456-5975117
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 5980742 5981249 507 5878
CTCF G2GSE9613 5982447 5982778 331 7495
CTCF G2GSE9613 5984333 5984937 604 9518
CTCF G2GSE9613 5988120 5988496 376 13191
Fos K562GSE19551 5974857 5975649 792 136
Rb GrowingGSE19898 5975202 5975388 186 178
Rb QuiescentGSE19898 5975293 5975586 293 322
Rb SenescentGSE19898 5975085 5975780 695 315
Rb SenescentGSE19898 5975787 5975989 202 771
USF1 HepG2E 5985865 5986841 976 11236
hScc1 BcellGSE12603 5975749 5976300 551 907
hScc1 BcellGSE12603 5980988 5981553 565 6153
hScc1 BcellGSE12603 5982305 5982805 500 7438
hScc1 BcellGSE12603 5990146 5990459 313 15185
p130 QuiescentGSE19898 5975069 5975465 396 150
p130 SenescentGSE19898 5974949 5975498 549 106
p130 shRbSenescentGSE19898 5974915 5975744 829 212
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 5825621 5825956 335 19668
CTCF G2GSE9613 5826648 5826973 325 18646
CTCF G2GSE9613 5829754 5830016 262 15572
CTCF G2GSE9613 5833218 5833520 302 12088
CTCF G2GSE9613 5835339 5835625 286 9975
CTCF G2GSE9613 5836912 5837124 212 8439
CTCF G2GSE9613 5837970 5838676 706 7134
CTCF G2GSE9613 5839846 5839981 135 5543
CTCF G2GSE9613 5840931 5841136 205 4423
CTCF G2GSE9613 5843155 5843597 442 2081
CTCF G2GSE9613 5844307 5844567 260 1020
ER Fulvestrant-MCF7GSE14664 5826044 5826082 38 19394
NRSF JurkatGSE13047 5828463 5830647 2184 15902
NRSF mAbJurkat 5827440 5829391 1951 17041
NRSF mAbJurkat 5829754 5830269 515 15445
NRSF mAbJurkat 5831294 5834217 2923 12701
NRSF mAbJurkat 5834691 5834933 242 10645
NRSF mAbJurkat 5835339 5835660 321 9957
NRSF-mono JurkatQuESTdata 5828322 5830517 2195 16037
NRSF-poly JurkatQuESTdata 5828653 5830577 1924 15842
hScc1 BcellGSE12603 5837798 5838216 418 7450
hScc1 BcellGSE12603 5840786 5841174 388 4477
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 5956065 5961503 5438 0
CTCF CD4GSE12889 5898641 5899069 428 0
CTCF CD4GSE12889 5957889 5958165 276 0
CTCF CD4SISSRdata 5898641 5899069 428 0
CTCF CD4SISSRdata 5957889 5958165 276 0
CTCF HelaGSE12889 5957829 5958103 274 0
CTCF G2GSE9613 5846817 5847275 458 0
CTCF G2GSE9613 5847873 5848212 339 0
CTCF G2GSE9613 5855567 5856665 1098 0
CTCF G2GSE9613 5857321 5857653 332 0
CTCF G2GSE9613 5858908 5859067 159 0
CTCF G2GSE9613 5860191 5860802 611 0
CTCF G2GSE9613 5863625 5864033 408 0
CTCF G2GSE9613 5865801 5865982 181 0
CTCF G2GSE9613 5867000 5868133 1133 0
CTCF G2GSE9613 5869830 5870012 182 0
CTCF G2GSE9613 5870543 5870955 412 0
CTCF G2GSE9613 5872343 5872577 234 0
CTCF G2GSE9613 5890567 5890802 235 0
CTCF G2GSE9613 5892435 5893540 1105 0
CTCF G2GSE9613 5896092 5896286 194 0
CTCF G2GSE9613 5898396 5899049 653 0
CTCF G2GSE9613 5930659 5930930 271 0
CTCF G2GSE9613 5932319 5932461 142 0
CTCF G2GSE9613 5934431 5934659 228 0
CTCF G2GSE9613 5945063 5945317 254 0
CTCF G2GSE9613 5949267 5949616 349 0
CTCF G2GSE9613 5951763 5952232 469 0
CTCF G2GSE9613 5957693 5958397 704 0
CTCF G2GSE9613 5974226 5975206 980 0
Fos K562GSE19551 5900110 5901024 914 0
Fos K562GSE19551 5965968 5966558 590 0
Gata2 K562GSE18868 5867990 5869433 1443 0
H3ac HepG2E 5915893 5916493 600 0
H3ac HepG2E 5973327 5974226 899 0
Myc K562GSE19551 5900107 5900859 752 0
NFkBII GM12878GSE19485 5898090 5899313 1223 0
Oct1 HelaGSE14283 5888272 5888321 49 0
P300 T30-glioblastomaGSE21026 5974598 5975592 994 0
Rb QuiescentGSE19898 5921155 5921314 159 0
TAF k562GSE8489 5900753 5900933 180 0
TAF k562GSE8489 5901611 5902356 745 0
TFAP2C MCF7GSE21234 5896190 5896670 480 0
TFAP2C MCF7GSE21234 5900196 5900538 342 0
USF1 HepG2E 5931325 5932664 1339 0
USF2 HepG2E 5931473 5932393 920 0
hScc1 BcellGSE12603 5846855 5847307 452 0
hScc1 BcellGSE12603 5849857 5850073 216 0
hScc1 BcellGSE12603 5855635 5856627 992 0
hScc1 BcellGSE12603 5859600 5860949 1349 0
hScc1 BcellGSE12603 5863750 5864033 283 0
hScc1 BcellGSE12603 5864420 5865523 1103 0
hScc1 BcellGSE12603 5866898 5868169 1271 0
hScc1 BcellGSE12603 5869866 5870230 364 0
hScc1 BcellGSE12603 5892510 5893504 994 0
hScc1 BcellGSE12603 5898361 5899014 653 0
hScc1 BcellGSE12603 5930829 5931093 264 0
hScc1 BcellGSE12603 5938911 5939139 228 0
hScc1 BcellGSE12603 5949198 5949475 277 0
hScc1 BcellGSE12603 5957622 5958397 775 0
hScc1 BcellGSE12603 5967799 5968105 306 0
hScc1 BcellGSE12603 5974539 5975270 731 0
hScc1 CdLSGSE12603 5898461 5899049 588 0
Validated miRNA targets Top
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
120 EST chr1 5985794 6094501 1003 mRNA NPHP4 chr1 5857135 5986797 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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