fgf8a (GeneID: 30538) | Danio rerio
Description: fibroblast growth factor 8a [Source:ZFIN;Acc:ZDB-GENE-990415-72]
Synonyms: wu:fb73a06, etID309886.13, ace, fgf8, d:ibd5031, fgf-8, cb110
Other ID(s): ZDB-GENE-990415-72, ENSDARG00000003399
Protein Accession Numbers: NP_571356
Statistics: ClinVar(24) gnomAD(248) COSMIC(69)
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.
ENST00000320185 ENST00000344255 ENST00000346714 ENST00000347978 You are here now! ENST00000469792 NP_001193318 NP_006110 You are here now! NP_149353 NP_149354 NP_149355


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
Cleft upper lip Stomatognathic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.543 0.655
Cleft Palate Musculoskeletal Diseases ; Stomatognathic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.543 0.655
DiGeorge Syndrome Musculoskeletal Diseases ; Cardiovascular Diseases ; Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ; 0.543 0.655
Holoprosencephaly Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.543 0.655
Kallmann Syndrome Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ; 0.543 0.655
Shprintzen syndrome Musculoskeletal Diseases ; Cardiovascular Diseases ; Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ; 0.543 0.655
Cardiovascular Abnormalities Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.543 0.655
Idiopathic hypogonadotropic hypogonadism Endocrine System Diseases ; 0.543 0.655
Craniofacial Abnormalities Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.543 0.655
Lobar Holoprosencephaly Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.543 0.655
Alobar Holoprosencephaly Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.543 0.655
Semilobar Holoprosencephaly Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.543 0.655
CONOTRUNCAL ANOMALY FACE SYNDROME Musculoskeletal Diseases ; Cardiovascular Diseases ; Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ; 0.543 0.655
Kallmann Syndrome 1 Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ; 0.543 0.655
Kallmann Syndrome 2 (disorder) Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ; 0.543 0.655
Cleft palate, isolated Musculoskeletal Diseases ; Stomatognathic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.543 0.655
Kallmann syndrome, type 3, recessive Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ; 0.543 0.655
22q11 Deletion Syndrome Musculoskeletal Diseases ; Cardiovascular Diseases ; Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ; 0.543 0.655
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA N/A 0.543 0.655
NO RESULT FOUND
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