PTCH1 (GeneID: 5727) | Homo sapiens
Description: patched 1 [Source:HGNC Symbol;Acc:HGNC:9585]
Synonyms: PTCH11, PTC, BCNS, PTCH, NBCCS, PTC1, HPE7
Other ID(s): HGNC:9585, ENSG00000185920
Protein Accession Numbers: NP_001077072, ENST00000418258, ENST00000548420, NP_001341847, ENST00000375271, ENST00000468211, ENST00000553011, NP_001077074, ENST00000429896, ENST00000551623, NP_001077071, ENST00000375290, ENST00000547672, NP_001077076, ENST00000331920.6, ENST00000437951, ENST00000551845, NP_001077073, ENST00000421141, ENST00000550914, NP_001341848, ENST00000375274, ENST00000546820, NP_000255, NP_001077075, ENST00000331920, ENST00000430669, ENST00000551630
Statistics: ClinVar(6445) gnomAD(2318) COSMIC(4055) PTM(10)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000331920 ENST00000375271 ENST00000375274 ENST00000375290 ENST00000418258 You are here now! ENST00000421141 You are here now! ENST00000429896 You are here now! ENST00000430669 ENST00000437951 ENST00000468211 ENST00000546820 ENST00000547672 ENST00000548420 ENST00000550914 ENST00000551623 ENST00000551630 ENST00000551845 ENST00000553011 NP_000255 NP_001077071 NP_001077072 NP_001077073 You are here now! NP_001077074 You are here now! NP_001077075 You are here now! NP_001077076 You are here now!


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF02460 Patched Patched family 966-1180 CL0322 RND_permease Homo sapiens
PF12349 Sterol-sensing Sterol-sensing domain of SREBP cleavage-activation 462-616 CL0322 RND_permease Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Basal Cell Nevus Syndrome Neoplasms ; Musculoskeletal Diseases ; Stomatognathic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.435 0.759
Brain Neoplasms Neoplasms ; Nervous System Diseases ; 0.435 0.759
Malignant neoplasm of skin Neoplasms ; Skin and Connective Tissue Diseases ; 0.435 0.759
Basal cell carcinoma Neoplasms ; 0.435 0.759
Squamous cell carcinoma Neoplasms ; 0.435 0.759
Cleft upper lip Stomatognathic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.435 0.759
Cleft Palate Musculoskeletal Diseases ; Stomatognathic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.435 0.759
HIV Infections Virus Diseases ; Immune System Diseases ; 0.435 0.759
Hydrocephalus Nervous System Diseases ; 0.435 0.759
Medulloblastoma Neoplasms ; 0.435 0.759
Pancreatic Neoplasm Neoplasms ; Digestive System Diseases ; Endocrine System Diseases ; 0.435 0.759
Rhabdomyosarcoma Neoplasms ; 0.435 0.759
Skin Neoplasms Neoplasms ; Skin and Connective Tissue Diseases ; 0.435 0.759
Holoprosencephaly Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.435 0.759
Cataract Eye Diseases ; 0.435 0.759
Malignant neoplasm of brain Neoplasms ; Nervous System Diseases ; 0.435 0.759
Medullomyoblastoma Neoplasms ; 0.435 0.759
Neuroectodermal Tumor, Primitive Neoplasms ; 0.435 0.759
Gastrointestinal Stromal Tumors Neoplasms ; Digestive System Diseases ; 0.435 0.759
Childhood Medulloblastoma Neoplasms ; 0.435 0.759
Adult Medulloblastoma Neoplasms ; 0.435 0.759
Spongioblastoma Neoplasms ; 0.435 0.759
Medulloepithelioma Neoplasms ; 0.435 0.759
Malignant neoplasm of pancreas Neoplasms ; Digestive System Diseases ; Endocrine System Diseases ; 0.435 0.759
Craniofacial Abnormalities Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.435 0.759
Lobar Holoprosencephaly Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.435 0.759
Alobar Holoprosencephaly Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.435 0.759
Benign neoplasm of brain, unspecified Neoplasms ; Nervous System Diseases ; 0.435 0.759
Ependymoblastoma Neoplasms ; 0.435 0.759
Brain Tumor, Primary Neoplasms ; Nervous System Diseases ; 0.435 0.759
Recurrent Brain Neoplasm Neoplasms ; Nervous System Diseases ; 0.435 0.759
Primary malignant neoplasm of brain Neoplasms ; Nervous System Diseases ; 0.435 0.759
Desmoplastic Medulloblastoma Neoplasms ; 0.435 0.759
Semilobar Holoprosencephaly Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.435 0.759
Cerebral Primitive Neuroectodermal Tumor Neoplasms ; 0.435 0.759
Oculo-dento-digital syndrome Musculoskeletal Diseases ; Stomatognathic Diseases ; Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.435 0.759
Melanotic medulloblastoma Neoplasms ; 0.435 0.759
Pigmented Basal Cell Carcinoma Neoplasms ; 0.435 0.759
Neoplasms, Intracranial Neoplasms ; Nervous System Diseases ; 0.435 0.759
HOLOPROSENCEPHALY 7 Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.435 0.759
Cleft palate, isolated Musculoskeletal Diseases ; Stomatognathic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.435 0.759
Basal cell carcinoma, multiple Neoplasms ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.435 0.759
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 N/A 0.435 0.759
Basal Cell Carcinoma, Nonsyndromic Neoplasms ; 0.435 0.759
Gastrointestinal Stromal Sarcoma Neoplasms ; Digestive System Diseases ; 0.435 0.759
9q22.3 Microdeletion Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.435 0.759
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.435 0.759
HIV Coinfection Virus Diseases ; Immune System Diseases ; 0.435 0.759
NO RESULT FOUND
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