Gene Gene information from NCBI Gene database.
Entrez ID 57670
Gene name KIAA1549
Gene symbol KIAA1549
Synonyms (NCBI Gene)
RP86
Chromosome 7
Chromosome location 7q34
Summary 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.
3
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.
470
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613344 22219 ENSG00000122778
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Retinal dystrophy Likely pathogenic rs2485558000 RCV003891175
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa Likely pathogenic; Pathogenic rs1554417054 RCV001199697
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa 86 Likely pathogenic; Pathogenic rs759848796, rs2485557946, rs2485556440, rs1584799745, rs776206391 RCV002289427
RCV003389580
RCV003989935
RCV000852363
RCV000852364
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTROCYTOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KIAA1549-related disorder Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Oligodendroglioma Oligodendroglioma BEFREE 22568401
★☆☆☆☆
Found in Text Mining only
Anaplastic astrocytoma Anaplastic Astrocytoma CTD_human_DG 23817572
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 19603027, 20068183, 21046410, 21884820, 22157620, 22568401, 22591444, 25040262, 25524464, 26083571, 26222501, 27469209, 28002790, 28448514, 29141672
View all (8 more)
Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Astrocytoma Astrocytoma BEFREE 20068183, 20976706, 24532263
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Astrocytoma Astrocytoma CTD_human_DG 23817572
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brain Neoplasms Brain neoplasms Pubtator 29976640 Associate
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 31181803
★☆☆☆☆
Found in Text Mining only
Brain Tumor, Primary Brain Neoplasms BEFREE 30265855
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma Pubtator 24422672 Associate
★☆☆☆☆
Found in Text Mining only
Cataract Cataract HPO_DG
★☆☆☆☆
Found in Text Mining only