ACD (GeneID: 65057) | Homo sapiens
Description: ACD, shelterin complex subunit and telomerase recruitment factor [Source:HGNC Symbol;Acc:HGNC:25070]
Synonyms: TPP1, PIP1, TINT1, PTOP
Other ID(s): HGNC:25070, ENSG00000102977
Protein Accession Numbers: ENST00000219251, NP_075065, ENST00000602850, ENST00000393919.4, NP_001075956, ENST00000602382, ENST00000393919, NP_001075955, ENST00000602320
Statistics: gnomAD(290)
gnomAD Variants By Annotation

∙ 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.
ENST00000219251 ENST00000393919 ENST00000602320 ENST00000602382 ENST00000602850 NP_001075955 NP_001075956 NP_075065


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
NO DOMAINS EXIST

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Hematologic Neoplasms Neoplasms ; Hemic and Lymphatic Diseases ; 0.624 0.69
HOYERAAL-HREIDARSSON SYNDROME Musculoskeletal Diseases ; Nervous System Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.624 0.69
Familial Atypical Mole Melanoma Syndrome N/A 0.624 0.69
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7 N/A 0.624 0.69
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 N/A 0.624 0.69
NO RESULT FOUND
feedback