AutismKB 2.0

Annotation Detail for PTCH1


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Basic Information Top
Gene Symbol:PTCH1 ( BCNS,FLJ26746,FLJ42602,HPE7,NBCCS,PTC,PTC1,PTCH,PTCH11 )
Gene Full Name: patched 1
Band: 9q22.32
Quick LinksEntrez ID:5727; OMIM: 601309; Uniprot ID:PTC1_HUMAN; ENSEMBL ID: ENSG00000185920; HGNC ID: 9585
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
141N-linked (GlcNAc...) (Potential).
312N-linked (GlcNAc...) (Potential).
349N-linked (GlcNAc...) (Potential).
414N-linked (GlcNAc...) (Potential).
875N-linked (GlcNAc...) (Potential).
1000N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
141N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
312N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
349N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
414N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
875N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1000N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
13MethylarginineHMM predict
36Phosphothreonine(PKA)HMM predict
71Phosphothreonine(PKC)HMM predict
141N-linkedHMM predict
215Phosphotyrosine(INSR)HMM predict
312N-linkedHMM predict
349N-linkedHMM predict
350Phosphoserine(PKG)HMM predict
414N-linkedHMM predict
425O-linkedHMM predict
523Phosphoserine(CAMK2)HMM predict
523Phosphoserine(CK1)HMM predict
552O-linkedHMM predict
555N-linkedHMM predict
618S-palmitoylHMM predict
630Phosphotyrosine(Abl)HMM predict
639Phosphotyrosine(Jak)HMM predict
639Phosphotyrosine(Syk)HMM predict
640Phosphoserine(CDC2)HMM predict
640O-linkedHMM predict
645Phosphotyrosine(Abl)HMM predict
647O-linkedHMM predict
676SulfotyrosineHMM predict
677O-linkedHMM predict
686O-linkedHMM predict
696Phosphothreonine(PKA)HMM predict
701Phosphoserine(IKK)HMM predict
706Phosphoserine(CK1)HMM predict
713Phosphoserine(ATM)HMM predict
788SulfotyrosineHMM predict
788Phosphotyrosine(SRC)HMM predict
861Phosphoserine(CK2)HMM predict
875N-linkedHMM predict
915N-linkedHMM predict
920Phosphotyrosine(Jak)HMM predict
955Phosphotyrosine(Syk)HMM predict
955Phosphotyrosine(INSR)HMM predict
971Phosphotyrosine(Abl)HMM predict
984Phosphothreonine(PKA)HMM predict
1000N-linkedHMM predict
1195O-linkedHMM predict
1195Phosphothreonine(MAPK)HMM predict
1197O-linkedHMM predict
1197Phosphoserine(CDC2)HMM predict
1197Phosphoserine(ATM)HMM predict
1206MethylarginineHMM predict
1216Phosphoserine(IKK)HMM predict
1221Phosphoserine(CK2)HMM predict
1223O-linkedHMM predict
1223Phosphoserine(CK1)HMM predict
1225Phosphotyrosine(Syk)HMM predict
1226Phosphoserine(CK1)HMM predict
1227Phosphoserine(ATM)HMM predict
1230O-linkedHMM predict
1354O-linkedHMM predict
1354O-linkedHMM predict
1370O-linkedHMM predict
1372O-linkedHMM predict
1376O-linkedHMM predict
1378O-linkedHMM predict
1425Phosphoserine(CK1)HMM predict
1425Phosphoserine(PKG)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000264
  • Location:chr9 97246220-97310651
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 97328826 97328907 81 18215
Oct4 hESGSE21916 97314354 97315009 655 4030
TAF k562GSE8489 97313593 97314750 1157 3520
TAF k562GSE8489 97315053 97316643 1590 5197
TFAP2C MCF7GSE21234 97313315 97313886 571 2949
USF1 HepG2E 97311677 97312807 1130 1591
hScc1 BcellGSE12603 97313004 97313182 178 2442
hScc1 BcellGSE12603 97317832 97318669 837 7599
p130 QuiescentGSE19898 97313277 97313979 702 2977
p130 SenescentGSE19898 97313281 97314136 855 3057
p130 shRbQuiescentGSE19898 97313302 97314221 919 3110
p130 shRbSenescentGSE19898 97313248 97313825 577 2885
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc hESGSE17917 97228197 97228561 364 17842
PHF8 293TGSE20725 97228358 97229392 1034 17346
PolII HeLaGSE12783 97227856 97229502 1646 17542
SRF GMOGSE8489 97236219 97236496 277 9863
TFAP2C MCF7GSE21234 97239391 97239925 534 6563
hScc1 BcellGSE12603 97244063 97244469 406 1955
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 97263714 97266322 2608 0
CTCF CD4GSE12889 97294111 97294292 181 0
CTCF CD4SISSRdata 97294111 97294292 181 0
FOXA1 MCF7GSE15244 97287713 97289991 2278 0
FOXA1 MCF7GSE15244 97300536 97301358 822 0
FOXA1 MCF7GSE15244 97301923 97302465 542 0
FOXA1 MCF7GSE15244 97306171 97306871 700 0
FoxA1 MCF7MACSdata 97301890 97302331 441 0
FoxA1 MCF7MACSdata 97306237 97306489 252 0
Gata2 K562GSE18868 97264545 97265546 1001 0
P300 T30-glioblastomaGSE21026 97301916 97302528 612 0
RARA MCF7GSE15244 97287830 97290026 2196 0
RARA MCF7GSE15244 97300536 97302965 2429 0
Rb QuiescentGSE19898 97264857 97265071 214 0
Rb QuiescentGSE19898 97309003 97309319 316 0
Rb SenescentGSE19898 97264776 97265078 302 0
VDR GM10861-stimGSE22484 97263719 97266013 2294 0
hScc1 BcellGSE12603 97264535 97265114 579 0
hScc1 BcellGSE12603 97288587 97288843 256 0
hScc1 BcellGSE12603 97296201 97296904 703 0
hScc1 BcellGSE12603 97308283 97311212 2929 0
hScc1 CdLSGSE12603 97264423 97265694 1271 0
p130 QuiescentGSE19898 97253314 97253567 253 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-146b-3p hsa-mir-146b 10 20459574
hsa-miR-146b-5p hsa-mir-146b 10 20459574
hsa-miR-17 hsa-mir-17 13 19196975
hsa-miR-17* hsa-mir-17 13 19196975
hsa-miR-19a hsa-mir-19a 13 19196975
hsa-miR-19a* hsa-mir-19a 13 19196975
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
26763 mRNA chr9 95305445 95311856 721 mRNA PTCH chr9 95285954 95350386Sense/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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