Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
65250
Gene name Gene Name - the full gene name approved by the HGNC.
Ciliogenesis and planar polarity effector complex subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CPLANE1
Synonyms (NCBI Gene) Gene synonyms aliases
C5orf42, Hug, JBTS17, OFD6
Disease Acronyms (UniProt) Disease acronyms from UniProt database
JBTS17, OFD6
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs34161326 C>T Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity Non coding transcript variant, coding sequence variant, synonymous variant
rs116237993 G>A Likely-benign, conflicting-interpretations-of-pathogenicity Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs138495618 T>C Conflicting-interpretations-of-pathogenicity Non coding transcript variant, synonymous variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs139675596 G>A Pathogenic Stop gained, coding sequence variant, non coding transcript variant
rs139940282 G>A,C Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance Missense variant, non coding transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0016021 Component Integral component of membrane IEA
GO:0035869 Component Ciliary transition zone IBA 21873635
GO:0060271 Process Cilium assembly IBA 21873635
GO:0060271 Process Cilium assembly IMP 25877302
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614571 25801 ENSG00000197603
Protein
UniProt ID Q9H799
Protein name Ciliogenesis and planar polarity effector 1 (Protein JBTS17)
Protein function Involved in ciliogenesis (PubMed:25877302, PubMed:35582950). Involved in the establishment of cell polarity required for directional cell migration. Proposed to act in association with the CPLANE (ciliogenesis and planar polarity effectors) comp
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15392 Joubert 2839 3190 Joubert syndrome-associated Family
Sequence
MEIRLEILTSTGIKQKKPWPRVSWLGKEKEAVFLLDDKFINEINLLSGKIKKKIPSLQPF
LKDVIVLTTSSNDAWLAGVLTTGELFLWNKDQDCLKTIPITEKPKEMIKATVASSLRLYL
YVSGNGKRIVLITPSGCIFLWEYLELKNILSSKSLSLAGRWSQVIPEEAVLLPSTEDKEA
VVNAVFIKNELFGDCCLCSFTFYSGECLKLTFLAIRWHENVFTSVRSLPYHVHWAQQDCH
LCSLIPKCESVKSRGALISAFSRDGLTLAVTLNQKDPKATQVLFINTLNFVTLCGSLKGC
SNKSPVVPATLIRSYWVGDISWTHDSLFLACMLKRGSLVLLTCQGELLTLITFGCSIEFG
PAEFIPLHPLITYRPQQFTFQDSNNSVDSSASDSDPMRQRFSIKAHSRLPYLVISDGYMV
TTLRFLDSLSPSVHMRSLLLDSTQRLEKIYQSVILSKPKGKGLNLRSLNSLRSSLLEHQG
NESSADFTVPKFLQAEETINENAADFQDFEAEETNEGRHFPDNLCPFWNKRDDVLCSSMK
EGRLEFASMFDTIHAKDDSEETDRTITELHSIQKSLLAAWTIGISKTVTEKNLMLNYIVV
CITHFFYILQFIKCPFPKLDLVLSKSSRHNAWILCIFQLFHQCLSIHYWDIRYKQDVGHL
IKLTSNTVKLLLTQQQKGQLFSEKLLACFYLLKMVADNLNGVYILQPEVISASADGSKIT
AQDSLVVPIFQMFQDSGFQKNWSWNSFFKIHPQVVNPVQQPGHRLLILWRILYKKTLWYQ
AQLNRRVPEADSQLTEKMTHEASTVKSLLCHLQANLQSTGDCLNQTLELKSINGEECFLL
GSYEKSVQLWKKALQEIEEKGGRRTYFLQIRYYLSLLYCHLYSYNLNDAQGLCDQLAREI
LRWSQLPVKENKDFSGAAKSHFECGMVGGVHPEAAVRVVQSMARFMAAYFTNQQLCILPP
HHVNVLPPLHIKTEQSFRLIPLQHSKVASVVRDQNLSNVWTVEYALELLFIGGLVPEAVW
LAYKLGDWKTSVSIGVAFQLFCKRDSNFMRSKKKSLNLPLRMTPAQIFQEKLQCVLGQPA
SLEAKNEMGSKYKQFTDPIEEEDANLLFGSVQEVLKASVMADADILSETFQLLIDSAKDF
SKRLWGLVPFGLYLPAPPLYCPQPAILSEEDGDDLLLKAEKNNRQKVSGILQRVLLLFRA
AQCSFPVAQWYILQLRWARKVMQKIRMKGSLPSLSPFPQSLLNYCKGGIAFFRPGAAGDH
KLDEVSIRAIGCFRELCALCWMLHVRDKLSYSCRQYQKARENVKGEKDLEVEFDSCMIEH
CLSAVEWAYRMLPFSRFFNMEELIQDIILSLIGELPPIRKVAEIFVKAFPYPEDVRVPLR
DKYHSLHQRLRHCVVKGPQTEEMMSVVMHSIQKVRVKALKRVQRNIGSFEVNIWEPIEEE
KPDEAPGVDRYSLGTSLSRSTLTELGDSVVHSDADTFSEALSVEEKSRINIYQRNAPNHM
ELTSIHKPTDKRKMCNQKENPTKKEDHEKLSQNTLPVIGVWEFERDDDEYIKFLDLFLSY
ILERDLPYSRDADIPFLTSFSGKLREHELNSLLFDVHTTLKRHQSKTKSQNVFRAGSCFV
VAPESYESEKSSSLNDEYGMHLENQKLSSSVLVNQGIKPFLQYPSNEVNKNEGMSGLFGL
KQRSIYKIQDDTREKCLIQRSSNHIFWTPKSIKTRRCIFKAIQCNDINPQEDLPLALNTF
GSIGRLLEWMIRWSNRRLLCDSGITESSSEYSPVIRVKTSTAAILTSLWLLEQPYFATYK
AKNAIIKMVENRDTGCQIGPNIERESKSDAGGSVAVATPGGTEERNGQNKSCQNILNRMP
TEAKNPDIKEINDDIISITHNTKKEFIDIDENLLEVEAFTEEEMDMHISDYEEDIEESVG
GFRSPSLAICMMTLPQQLEEEFTEEVQCQREEPLETIMEEKSTEQKGMIEAFSHPGHTTP
QSMQVDTSSEISSAQISTYKEKSSSVPLLISNGVNVASQPPAPTPQKTQRNEFTAQLPDC
SESVRQMLQDEMFKLVQLQQINFMSLMQIVGSSFANLPDTQQLVQQSQSVHLGESQESNL
RGCGDVEDSNKNLKERFFIKPQSMGENAREPRKNSPHCHEGTIPSGQNSTGNVQNVPHGS
IPLCQLNGQPRKKGPIPSSQNLPSTSFYPAPAGNTHLYLLSTPSVVQKAPRLIPHAKTFS
PGDGFPLLQFKSKQEFQPLFLHTGSIPQVPFRPLPQPREAWGLSDSFQPALPQRAAQTTP
ASHLNVSQYNTEARKKEVEQKTWAETVITEIPNHVNLDQYVGQENLTPQQDSSVFIKPEK
LFDVKPGTLEISPHHSFGLPLLYLPLKPPNMFPSTSRASITVPSTPIQPIAEERKYPRLS
LLHSHLSPENRCKKTQLIPLENLIAFKQSQQKLTHNLFEQGDAGHLQLLKVKIEPPEVRQ
GKDSKKRQRRRAEKELQEKRCEKLRRKPNVTFRPENSIINNDDSEIIKKPKEQQEHCGSH
PLDDFDVPFEMLQDDNTSAGLHFMASVKKKAIGSQDASTNTDPEHEPLTAPQLLVPDVYL
NLKLSSEMSEKPWSPSIPHTVTNLELPVREEPSNDNVIKQQSDHLAVPSSAELHYMAASV
TNAVPPHNFKSQGLPKPEFRFKGQSTKSDSAEDYLLWKRLQGVSAACPAPSSAAHQLEHL
SAKLQKIDEQLLAIQNIAENIEQDFPKPEMLDLHCDKIGPVDHIEFSSGPEFKKTLASKT
ISISEEVRFLTHMDEEDQSDKKETSEPEFSITENYSGQKTCVFPTADSAVSLSSSSDQNT
TSPGMNSSDELCESVSVHPLQMTGLTDIADIIDDLIIKDGVSSEELGLTEQAMGTSRIQH
YSGRHSQRTDKERREIQAWMKRKRKERMAKYLNELAEKRGQEHDPFCPRSNPLYMTSREI
RLRQKMKHEKDRLLLSEHYSRRISQAYGLMNELLSESVQLPTLPQKPLPNKPSPTQSSSC
QHCPSPRGENQHGHSFLINRPGKVKYMSKPSYIHKRKSFGQPQGSPWPHGTATFTIQKKA
GGAKAAVRKATQSPVTFQKGSNAPCHSLQHTKKHGSAGLAPQTKQVCVEYEREETVVSPW
TIPSEIHKILHESHNSLLQDLSPTEEEEPEHPFGVGGVDSVSESTGSILSKLDWNAIEDM
VASVEDQGLS
VHWALDL
Sequence length 3197
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Cerebellar vermis agenesis Familial aplasia of the vermis rs201108965, rs13297509, rs121918129, rs121918130, rs121918197, rs121918198, rs121918199, rs121918203, rs121918204, rs145665129, rs121434348, rs121434349, rs267606641, rs201391050, rs387907003
View all (121 more)
24178751, 22425360, 25920555, 22693042
Congenital heart defects Congenital Heart Defects rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321
View all (13 more)
Cryptorchidism Bilateral Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Unknown
Disease term Disease name Evidence References Source
Monomelic amyotrophy Amyotrophy, monomelic, Monomelic amyotrophy 22264561 ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Renal dysplasia Renal Cell Dysplasia, Renal dysplasia ClinVar
Orofaciodigital Syndrome orofaciodigital syndrome type 6 GenCC
Associations from Text Mining
Disease Name Relationship Type References
Agenesis of Cerebellar Vermis Associate 22425360, 25407461, 25846457, 25920555, 29146704, 29955609, 29961766, 33010677, 33794348
Congenital Abnormalities Associate 25407461
Craniocerebral Trauma Associate 33794348
Hamartoma Associate 25407461
Hydatidiform Mole Associate 29955609
Hypothalamic hamartomas Associate 25407461
Intellectual Disability Associate 34452636
Meckel syndrome type 1 Associate 23169490
Orofaciodigital syndrome 6 Associate 25407461, 25846457
Orofaciodigital Syndromes Associate 29961766