Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57670
Gene name Gene Name - the full gene name approved by the HGNC.
KIAA1549
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KIAA1549
Synonyms (NCBI Gene) Gene synonyms aliases
RP86
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q34
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene belongs to the UPF0606 family. This gene has been found to be fused to the BRAF oncogene in many cases of pilocytic astrocytoma. The fusion results from 2Mb tandem duplications at 7q34. Alternative splicing results in mult
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs776206391 G>A,T Pathogenic Coding sequence variant, synonymous variant, missense variant
rs1554417054 A>- Likely-pathogenic Coding sequence variant, frameshift variant
rs1584799745 G>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020302 hsa-miR-130b-3p Sequencing 20371350
MIRT020402 hsa-miR-29c-3p Sequencing 20371350
MIRT026005 hsa-miR-148a-3p Sequencing 20371350
MIRT052142 hsa-let-7b-5p CLASH 23622248
MIRT049354 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 37207277
GO:0005886 Component Plasma membrane TAS
GO:0005929 Component Cilium IEA
GO:0016020 Component Membrane IEA
GO:0032391 Component Photoreceptor connecting cilium IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613344 22219 ENSG00000122778
Protein
UniProt ID Q9HCM3
Protein name UPF0606 protein KIAA1549
Protein function May play a role in photoreceptor function.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12877 DUF3827 1036 1702 Domain of unknown function (DUF3827) Family
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Expression is low to moderate in retina and tissues, such as heart and kidney, and is predominantly expressed in brain. {ECO:0000269|PubMed:30120214}.; TISSUE SPECIFICITY: [Isoform 4]: Abundantly expressed in the retina, c
Sequence
MPGARRRRRGAAMEGKPRAGVALAPGPSGRRPSARCARRRRPGLLLPGLWLLLLARPASC
APDELSPEQHNLSLYSMELVLKKSTGHSAAQVALTETAPGSQHSSPLHVTAPPSATTFDT
AFFNQGKQTKSTADPSIFVATYVSVTSKEVAVNDDEMDNFLPDTHWTTPRMVSPIQYITV
SPPGLPREALEPMLTPSLPMVSLQDEEVTSGWQNTTRQPAAYAESASHFHTFRSAFRTSE
GIVPTPGRNLVLYPTDAYSHLSSRTLPEIVASLTEGVETTLFLSSRSLMPQPLGDGITIP
LPSLGEVSQPPEEVWATSADRYTDVTTVLSQSLEETISPRTYPTVTASHAALAFSRTHSP
LLSTPLAFASSASPTDVSSNPFLPSDSSKTSELHSNSALPGPVDNTHILSPVSSFRPYTW
CAACTVPSPQQVLATSLMEKDVGSGDGAETLCMTVLEESSISLMSSVVADFSEFEEDPQV
FNTLFPSRPIVPLSSRSMEISETSVGISAEVDMSSVTTTQVPPAHGRLSVPASLDPTAGS
LSVAETQVTPSSVTTAFFSVITSILLDSSFSVIANKNTPSLAVRDPSVFTPYSLVPSVES
SLFSDQERSSFSEHKPRGALDFASSFFSTPPLELSGSISSPSEAPASLSLMPSDLSPFTS
QSFSPLVETFTLFDSSDLQSSQLSLPSSTNLEFSQLQPSSELPLNTIMLLPSRSEVSPWS
SFPSDSLEFVEASTVSLTDSEAHFTSAFIETTSYLESSLISHESAVTALVPPGSESFDIL
TAGIQATSPLTTVHTTPILTESSLFSTLTPPDDQISALDGHVSVLASFSKAIPTGTVLIT
DAYLPSGSSFVSEATPFPLPTELTVVGPSLTPTEVPLNTSTEVSTTSTGAATGGPLDSTL
MGDAASQSPPESSAAPPLPSLRPVTAFTLEATVDTPTLATAKPPYVCDITVPDAYLITTV
LARRAVQEYIITAIKEVLRIHFNRAVELKVYELFTDFTFLVTSGPFVYTAISVINVLINS
KLVRDQTPLILSVKPSFLVPESRFQVQTVLQFVPPSVDTGFCNFTQRIEKGLMTALFEVR
KHHQGTYNLTVQILNITISSSRVTPRRGPVNIIFAVKSTQGFLNGSEVSELLRNLSVVEF
SFYLGYPVLQIAEPFQYPQLNLSQLLKSSWVRTVLLGVMEKQLQNEVFQAEMERKLAQLL
SEVSTRRRMWRRATVAAGNSVVQVVNVSRLEGDDNPVQLIYFVEDQDGERLSAVKSSDLI
NKMDLQRAAIILGYRIQGVIAQPVDRVKRPSPESQSNNLWVIVGVVIPVLVVMVIVVILY
WKLCRTDKLDFQPDTVANIQQRQKLQIPSVKGFDFAKQHLGQHNKDDILIIHEPAPLPGP
LKDHTTPSENGDVPSPKSKIPSKNVRHRGRVSPSDADSTVSEESSERDAGDKTPGAVNDG
RSHRAPQSGPPLPSSGNEQHSSASIFEHVDRISRPPEASRRVPSKIQLIAMQPIPAPPVQ
RPSPADRVAESNKINKEIQTALRHKSEIEHHRNKIRLRAKRRGHYEFPVVDDLSSGDTKE
RHRVYRRAQMQIDKILDPTASVPSVFIEPRKSSRIKRSPKPRRKHQVNGCPADAEKDRLI
TTDSDGTYRRPPGVHNSAYIGCPSDPDLPADVQTPSSVELGRYPALPFPASQYIPPQPSI
EEARQTMHSLLDDAFALVAPSS
QPASTAGVGPGVPPGLPANSTPSQEERRATQWGSFYSP
AQTANNPCSRYEDYGMTPPTGPLPRPGFGPGLLQSTELVPPDPQQPQASAEAPFAARGIY
SEEMPSVARPRPVGGTTGSQIQHLTQVGIASRIGAQPVEIPPSRGSQYGGPGWPSYGEDE
AGRREATHMLGHQEYSSSPLFQVPRTSGREPSAPSGNLPHRGLQGPGLGYPTSSTEDLQP
GHSSASLIKAIREELLRLSQKQSTVQNFHS
Sequence length 1950
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Signaling by BRAF and RAF fusions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Retinitis Pigmentosa retinitis pigmentosa, Retinitis pigmentosa 86 rs1554417054, rs1584799745, rs776206391 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Optic Atrophy optic atrophy N/A N/A ClinVar
retinal dystrophy Retinal dystrophy N/A N/A ClinVar
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Astrocytoma Associate 19603027, 20068183, 21046410, 21884820, 22157620, 22568401, 22591444, 25040262, 25524464, 26083571, 26222501, 27469209, 28002790, 28448514, 29141672
View all (8 more)
Brain Neoplasms Associate 29976640
Carcinoma Associate 24422672
Central Nervous System Neoplasms Associate 26115961
Epidermolysis bullosa with pyloric atresia Associate 26083571
Ganglioglioma Associate 25524464
Glioma Associate 21884820, 22157620, 22568401, 22591444, 25040262, 26115961, 28912153
Infratentorial Neoplasms Associate 23702730
Lymphoma Non Hodgkin Associate 24767714, 25040262, 33346834, 34626238
Meningeal Neoplasms Associate 29802359, 32605662, 34493325