Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	79848
Gene name Gene Name - the full gene name approved by the HGNC.	Centrosome and spindle pole associated protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CSPP1
Synonyms (NCBI Gene) Gene synonyms aliases	CSPP, CSPP-L, JBTS21
Disease Acronyms (UniProt) Disease acronyms from UniProt database	JBTS21
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q13.1-q13.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in

Show/Hide all(29)

SNP ID	Visualize variation	Clinical significance	Consequence
rs200158932	A>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, 5 prime UTR variant, missense variant, intron variant, coding sequence variant
rs374703898	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, stop gained, synonymous variant, 5 prime UTR variant
rs375113643	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs537456518	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs587777138	C>T	Pathogenic	Stop gained, coding sequence variant
rs587777139	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs587777140	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs587777142	G>A,T	Pathogenic	Splice donor variant
rs587777143	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587777145	AAGA>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs587777146	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, 5 prime UTR variant
rs750696284	AG>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant
rs761382780	AGAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs766020802	AA>-	Pathogenic	Frameshift variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs771203308	C>T	Pathogenic	Stop gained, coding sequence variant
rs863225190	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs863225191	AGAAGAA>-,AGAAGAAAGAAGAA	Pathogenic	Frameshift variant, coding sequence variant
rs863225192	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs863225193	G>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs863225194	G>C	Pathogenic	Splice donor variant, genic upstream transcript variant
rs886044058	G>T	Pathogenic	5 prime UTR variant, stop gained, genic upstream transcript variant, intron variant, coding sequence variant
rs1021950925	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1189289587	GGAAGAAAGAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1380418532	A>T	Pathogenic	Stop gained, coding sequence variant
rs1402669959	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1554562278	TA>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant
rs1554604482	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1554614893	TATCTATAGGAAAAAGGAAAGGAATCCCATGGATATATTTGATATGGCTAGACATCGGTTGCAAGCTCCTGTCAGAAGACAGTCCCCTAAGGGCTTAGACGCTGCCACTTTTCAGAATGTTCATGATTTTAATGAGCTGAAAGATAGAGGTGAGTAGATT>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant, splice acceptor variant
rs1563720581	A>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(20)

miRTarBase ID	miRNA	Experiments	Reference
MIRT039226	hsa-miR-454-3p	CLASH	23622248
MIRT037940	hsa-miR-505-5p	CLASH	23622248
MIRT737353	hsa-miR-193a-5p	Luciferase reporter assay, RNA-seq, qRT-PCR	32612946
MIRT912916	hsa-miR-4522	CLIP-seq
MIRT912917	hsa-miR-944	CLIP-seq
MIRT1970759	hsa-miR-1244	CLIP-seq
MIRT1970760	hsa-miR-145	CLIP-seq
MIRT2206529	hsa-miR-199a-3p	CLIP-seq
MIRT2206530	hsa-miR-199b-3p	CLIP-seq
MIRT2206531	hsa-miR-204	CLIP-seq
MIRT2206532	hsa-miR-205	CLIP-seq
MIRT2206533	hsa-miR-211	CLIP-seq
MIRT2206534	hsa-miR-3129-5p	CLIP-seq
MIRT2206535	hsa-miR-4718	CLIP-seq
MIRT2206536	hsa-miR-4755-5p	CLIP-seq
MIRT2206537	hsa-miR-544	CLIP-seq
MIRT2206538	hsa-miR-579	CLIP-seq
MIRT2206539	hsa-miR-582-5p	CLIP-seq
MIRT2206540	hsa-miR-623	CLIP-seq
MIRT2206541	hsa-miR-936	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IBA	21873635
GO:0000922	Component	Spindle pole	IDA	19129481
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA	21873635
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005819	Component	Spindle	IDA	19129481
GO:0005874	Component	Microtubule	IEA
GO:0032467	Process	Positive regulation of cytokinesis	IBA	21873635
GO:0032467	Process	Positive regulation of cytokinesis	IMP	19129481
GO:0051781	Process	Positive regulation of cell division	IMP	19129481

MIM	HGNC	e!Ensembl
611654	26193	ENSG00000104218

Protein

UniProt ID

Q1MSJ5

Protein name

Centrosome and spindle pole-associated protein 1

Protein function

May play a role in cell-cycle-dependent microtubule organization.

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Expressed in adult and fetal brain with enrichment in the cerebellum. Detected in testis. {ECO:0000269|PubMed:15580290, ECO:0000269|PubMed:24360807}.

Sequence

MLFPLQVAAVTSSVRDDPLEHCVSPRTRARSPEICKMADNLDEFIEEQKARLAEDKAELE
SDPPYMEMKGKLSAKLSENSKILISMAKENIPPNSQQTRGSLGIDYGLSLPLGEDYERKK
HKLKEELRQDYRRYLTQGITQGKRKKNFLSTSETDPSTLGVSLPIGERLSAKERLKLERN
KEYNQFLRGKEESSEKFRQVEKSTEPKSQRNKKPIGQVKPDLTSQIQTSCENSEGPRKDV
LTPSEAYEELLNQRRLEEDRYRQLDDEIELRNRRIIKKANEEVGISNLKHQRFASKAGIP
DRRFHRFNEDRVFDRRYHRPDQDPEVSEEMDERFRYESDFDRRLSRVYTNDRMHRNKRGN
MPPMEHDGDVIEQSNIRISSAENKSAPDNETSKSANQDTCSPFAGMLFGGEDRELIQRRK
EKYRLELLEQMAEQQRNKRREKDLELRVAASGAQDPEKSPDRLKQFSVAPRHFEEMIPPE
RPRIAFQTPLPPLSAPSVPPIPSVHPVPSQNEDLRSGLSSALGEMVSPRIAPLPPPPLLP
PLATNYRTPYDDAYYFYGSRNTFDPSLAYYGSGMMGVQPAAYVSAPVTHQLAQPVVNTVG
QNELKITSDQVINSGLIFEDKPKPSKQSLQSYQEALQQQIREREERRKKEREEKEEYEAK
LEAEMRTYNPWGKGGGGAPLRDAKGNLITDLNRMHRQNIDAYHNPDARTYEDKRAVVSLD
PNLATSNAENLEDAANKSSGHMQTQSSPFARGNVFGEPPTELQIKQQELYKNFLRFQIEE
KKQREEAERERLRIAEEKEERRLAEQRARIQQEYEEEQEKKREKEEEQRLKNEEHIRLAE
ERQKEAERKKKEEEEKYNLQLQHYCERDNLIGEETKHMRQPSPIVPALQNKIASKLQRPP
SVDSIIRSFIHESSMSRAQSPPVPARKNQLRAEEEKKNVIMELSEMRKQLRSEERRLQER
LLHMDSDDEIPIRKKERNPMDIFDMARHRLQAPVRRQSPKGLDAATFQNVHDFNELKDRD
SETRVDLKFMYLDPPRDHHTLEIQQQALLREQQKRLNRIKMQEGAKVDLDAIPSAKVREQ
RMPRDDTSDFLKNSLLESDSAFIGAYGETYPAIEDDVLPPPSQLPSARERRRNKWKGLDI
DSSRPNVAPDGLSLKSISSVNVDELRVRNEERMRRLNEFHNKPINTDDESSLVDPDDIMK
HIGDDGSNSVATEPWLRPGTSETLKRFMAEQLNQEQQQIPGKPGTFTWQGLSTAHG

Sequence length

1256

Interactions

View interactions

Show/Hide Causal Diseases (26)

Disease term	Disease name	dbSNP ID	References
Causal
Anencephaly	Anencephaly	rs773607884
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 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)	24360808, 24360807, 24360803
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Hirschsprung disease	Hirschsprung Disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323 View all (4 more)
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Joubert syndrome	JOUBERT SYNDROME 21, Joubert syndrome 1, Joubert syndrome	rs201108965, rs13297509, rs121918128, rs121918129, rs121918130, rs2109050324, rs118204052, rs118204053, rs121918197, rs121918198, rs121918199, rs121918200, rs121918204, rs387906243, rs145665129 View all (432 more)	26092869, 24360803, 24360808, 24360807
Lobar holoprosencephaly	Lobar Holoprosencephaly	rs121909645
Meckel syndrome	Meckel syndrome type 1, Meckel syndrome	rs201108965, rs386833831, rs386833830, rs116358011, rs118204052, rs121918201, rs121918202, rs121918203, rs137852835, rs267606719, rs386834200, rs386834204, rs386834207, rs137853106, rs386834187 View all (125 more)	24360807, 24360808, 24360803
Meckel-gruber syndrome	Meckel-Gruber syndrome	rs121918203, rs137852832, rs386833760, rs386834180, rs397514753, rs62640570, rs587777145, rs377177061, rs587779733, rs587779736, rs730882231, rs730882233, rs786205508, rs201787275, rs886039792 View all (9 more)
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Polycystic liver disease	Polycystic liver disease	rs137852944, rs137852949, rs398124483, rs200391019, rs786204696, rs773136605, rs781368899, rs376161880, rs774759689, rs762811727, rs1210158408, rs1565088616, rs1565092566, rs1565092899, rs1565093675 View all (11 more)
Polydactyly	Polydactyly, POLYDACTYLY, POSTAXIAL, Polydactyly preaxial type 1	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474 View all (3 more)
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Renal insufficiency	Renal Insufficiency	rs1596536873
Retinal dystrophy	Retinal Dystrophies	rs267606794, rs200691042, rs397704718, rs202193201, rs794728002, rs121965036, rs121965057, rs121918129, rs137853190, rs386834252, rs121918165, rs137853113, rs137853114, rs121918328, rs587777803 View all (2328 more)
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Situs inversus	Situs inversus totalis	rs528302390, rs1596264554
Syndromic microphthalmia	Anophthalmos	rs786205873, rs104894464, rs786205874, rs104894465, rs387906701, rs1566623121, rs786205879, rs1566624472, rs397514463, rs1566623392, rs387907252, rs397518481, rs397518482, rs397518483, rs587776457 View all (19 more)

Show/Hide Unknown Diseases (6)

Disease term	Disease name	Source
Unknown
Duane retraction syndrome	Duane Retraction Syndrome	ClinVar
Ptosis	Blepharoptosis, Ptosis	ClinVar
Renal dysplasia	Renal Cell Dysplasia, Renal dysplasia	ClinVar
Meckel Syndrome	Meckel syndrome	GenCC
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	GenCC
Joubert Syndrome	Joubert syndrome 21	GenCC

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining
Agenesis of Cerebellar Vermis	Associate	24360803, 24360807
Agenesis of Corpus Callosum	Associate	33270637
Breast Neoplasms	Associate	24901235
Carcinogenesis	Associate	37722005
Carcinoma Basal Cell	Associate	24901235
Carcinoma Renal Cell	Associate	37722005
Carcinoma Squamous Cell	Associate	28901451
Ciliopathies	Associate	24360803
Encephalocele	Associate	24360803
Leukoplakia	Associate	28901451
Meckel syndrome type 1	Associate	24360803
Neoplasm Metastasis	Associate	32495924
Neoplasms	Associate	28901451, 32495924
Wilms Tumor	Associate	35578692

CSPP1 (centrosome and spindle pole associated protein 1)