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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
194
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Retinal dystrophy Likely pathogenic rs2485558000 RCV003891175
Retinitis pigmentosa Likely pathogenic; Pathogenic rs1554417054 RCV001199697
Retinitis pigmentosa 86 Likely pathogenic; Pathogenic rs759848796, rs2485557946, rs2485556440, rs1584799745, rs776206391 RCV002289427
RCV003389580
RCV003989935
RCV000852363
RCV000852364
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Benign rs116788555 RCV005907400
KIAA1549-related disorder Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity rs138549974, rs61734245, rs375104518, rs753283721, rs551844143, rs138395431, rs377359028, rs568706447, rs146280134, rs80222245, rs752657504, rs565452410, rs200244255, rs201109912, rs572555872
View all (25 more)
RCV003963271
RCV003963269
RCV003973274
RCV003946199
RCV003938860
RCV003938877
RCV003965994
RCV003980420
RCV003931025
RCV004746403
RCV003940870
RCV003908859
RCV003908851
RCV003940962
RCV003908868
RCV003940915
RCV003911060
RCV003923358
RCV003951014
RCV003978801
RCV003951231
RCV003963700
RCV003961233
RCV003410583
RCV003420717
RCV003911905
RCV003927241
RCV003937116
RCV003927005
RCV003943111
RCV003975644
RCV004746125
RCV003930604
RCV004746138
RCV003912838
RCV003975722
RCV003977945
RCV003933006
RCV003950734
RCV003902959
Nonpapillary renal cell carcinoma Likely benign rs374513712 RCV005912687
Optic atrophy Likely benign; Uncertain significance rs202110418, rs371772877 RCV004817140
RCV004813646
Associations from Text MiningDisease 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