SUFU (GeneID: 51684) | Homo sapiens
Description: SUFU negative regulator of hedgehog signaling [Source:HGNC Symbol;Acc:HGNC:16466]
Synonyms: PRO1280, SUFUXL, SUFUH
Other ID(s): ENSG00000107882, HGNC:16466
Protein Accession Numbers: ENST00000369902, NP_001171604, ENST00000369899, ENST00000423559, NP_057253
Statistics: ClinVar(457) gnomAD(363) COSMIC(511) PTM(18)
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.
ENST00000369899 ENST00000369902 You are here now! ENST00000423559 NP_001171604 NP_057253 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
PF05076 SUFU Suppressor of fused protein (SUFU) 64-241 Homo sapiens
PF12470 SUFU_C Suppressor of Fused Gli/Ci N terminal binding domain 253-473 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 ; 0.565 0.621
Basal cell carcinoma Neoplasms ; 0.565 0.621
Hydrocephalus Nervous System Diseases ; 0.565 0.621
Medulloblastoma Neoplasms ; 0.565 0.621
Holoprosencephaly Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.565 0.621
Medullomyoblastoma Neoplasms ; 0.565 0.621
Meningiomas, Multiple Neoplasms ; Nervous System Diseases ; 0.565 0.621
Gastrointestinal Stromal Tumors Neoplasms ; Digestive System Diseases ; 0.565 0.621
Childhood Medulloblastoma Neoplasms ; 0.565 0.621
Adult Medulloblastoma Neoplasms ; 0.565 0.621
Desmoplastic Medulloblastoma Neoplasms ; 0.565 0.621
Acrocallosal Syndrome Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.565 0.621
Oculo-dento-digital syndrome Musculoskeletal Diseases ; Stomatognathic Diseases ; Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.565 0.621
Melanotic medulloblastoma Neoplasms ; 0.565 0.621
Familial meningioma Neoplasms ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.565 0.621
Medulloblastoma with extensive nodularity N/A 0.565 0.621
Pigmented Basal Cell Carcinoma Neoplasms ; 0.565 0.621
Acrocallosal syndrome, Schinzel type Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.565 0.621
Gastrointestinal Stromal Sarcoma Neoplasms ; Digestive System Diseases ; 0.565 0.621
Ciliopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.565 0.621
JOUBERT SYNDROME 32 N/A 0.565 0.621
NO RESULT FOUND
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