POU4F1 (GeneID: 5457) | Homo sapiens
Description: POU class 4 homeobox 1 [Source:HGNC Symbol;Acc:HGNC:9218]
Synonyms: RDC-1, brn-3A, Oct-T1, BRN3A
Other ID(s): HGNC:9218, ENSG00000152192
Protein Accession Numbers: ENST00000377208, NP_006228, ENST00000377208.5
Statistics: ClinVar(2) COSMIC(151) PTM(5)
ClinVar Pathogenicity of Variations help
50%50%10010090908080707060605050404030302020101000
Pathogenic
VUS
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∙ 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.
ENST00000377208 You are here now! NP_006228 You are here now!


import_contactsClinVar Data

healinggnomAD
10010090908080707060605050404030302020101000

placePost-translational Modifications (PTMs)
100%10010090908080707060605050404030302020101000
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blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
4%1%30%37%2%24%10010090908080707060605050404030302020101000
Deletion - Frameshift
Deletion - In Frame
Insertion - Frameshift
Insertion - In Frame
Substitution - Coding Silent
Substitution - Missense
Substitution - Nonsense
Unknown
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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
PF00046 Homeodomain Homeodomain 356-412 CL0123 HTH Homo sapiens
PF00157 Pou Pou domain - N-terminal to homeobox domain 263-337 CL0123 HTH Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Uterine Cervical Neoplasm Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; 0.672 0.276
Leukemia, Myelocytic, Acute Neoplasms ; 0.672 0.276
Acute Myeloid Leukemia, M1 Neoplasms ; 0.672 0.276
Cervical Intraepithelial Neoplasia Neoplasms ; 0.672 0.276
Carcinoma in situ of uterine cervix Neoplasms ; 0.672 0.276
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.672 0.276
cervical cancer Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; 0.672 0.276
NO RESULT FOUND
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