Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6491
Gene name Gene Name - the full gene name approved by the HGNC.
STIL centriolar assembly protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
STIL
Synonyms (NCBI Gene) Gene synonyms aliases
MCPH7, SIL
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MCPH7
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p33
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The prot
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs75426387 C>A,T Likely-benign, conflicting-interpretations-of-pathogenicity Missense variant, non coding transcript variant, coding sequence variant
rs113337758 G>A Conflicting-interpretations-of-pathogenicity 3 prime UTR variant, synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs121918609 G>A,C Pathogenic Genic downstream transcript variant, missense variant, stop gained, coding sequence variant, 3 prime UTR variant, non coding transcript variant
rs139912214 C>G Likely-pathogenic, likely-benign, benign-likely-benign Non coding transcript variant, missense variant, coding sequence variant
rs144746030 G>A Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT024832 hsa-miR-215-5p Microarray 19074876
MIRT026496 hsa-miR-192-5p Microarray 19074876
MIRT029440 hsa-miR-26b-5p Microarray 19088304
MIRT051025 hsa-miR-17-5p CLASH 23622248
MIRT050600 hsa-miR-20a-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000578 Process Embryonic axis specification ISS
GO:0001701 Process In utero embryonic development ISS
GO:0001843 Process Neural tube closure ISS
GO:0001947 Process Heart looping ISS
GO:0005515 Function Protein binding IPI 22020124, 24076405, 25385835, 26188084, 26638075
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
181590 10879 ENSG00000123473
Protein
UniProt ID Q15468
Protein name SCL-interrupting locus protein (TAL-1-interrupting locus protein)
Protein function Immediate-early gene. Plays an important role in embryonic development as well as in cellular growth and proliferation; its long-term silencing affects cell survival and cell cycle distribution as well as decreases CDK1 activity correlated with
PDB 4YYP , 5LHW , 5LHZ , 8OYK , 8OYL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15253 STIL_N 33 435 SCL-interrupting locus protein N-terminus Family
Tissue specificity TISSUE SPECIFICITY: Expressed in all hematopoietic tissues and cell lines. Highly expressed in a variety of tumors characterized by increased mitotic activity with highest expression in lung cancer. {ECO:0000269|PubMed:15107824, ECO:0000269|PubMed:1922059
Sequence
MEPIYPFARPQMNTRFPSSRMVPFHFPPSKCALWNPTPTGDFIYLHLSYYRNPKLVVTEK
TIRLAYRHAKQNKKNSSCFLLGSLTADEDEEGVTLTVDRFDPGREVPECLEITPTASLPG
DFLIPCKVHTQELCSREMIVHSVDDFSSALKALQCHICSKDSLDCGKLLSLRVHITSRES
LDSVEFDLHWAAVTLANNFKCTPVKPIPIIPTALARNLSSNLNISQVQGTYKYGYLTMDE
TRKLLLLLESDPKVYSLPLVGIWLSGITHIYSPQVWACCLRYIFNSSVQERVFSESGNFI
IVLYSMTHKEPEFYECFPCDGKIPDFRFQLLTSKETLHLFKNVEPPDKNPIRCELSAESQ
NAETEFFSKASKNFSIKRSSQKLSSGKMPIHDHDSGVEDEDFSPRPIPSPHPVSQKISKI
QPSVPELSLVLDGNF
IESNPLPTPLEMVNNENPPLINHLEHLKPLQPQLYDEKHSPEVEA
GEPSLRGIPNQLNQDKPALLRHCKVRQPPAYKKGNPHTRNSIKPSSHNGPSHDIFEKLQT
VSAGNVQNEEYPIRPSTLNSRQSSLAPQSQPHDFVFSPHNSGRPMELQIPTPPLPSYCST
NVCRCCQHHSHIQYSPLNSWQGANTVGSIQDVQSEALQKHSLFHPSGCPALYCNAFCSSS
SPIALRPQGDMGSCSPHSNIEPSPVARPPSHMDLCNPQPCTVCMHTPKTESDNGMMGLSP
DAYRFLTEQDRQLRLLQAQIQRLLEAQSLMPCSPKTTAVEDTVQAGRQMELVSVEAQSSP
GLHMRKGVSIAVSTGASLFWNAAGEDQEPDSQMKQDDTKISSEDMNFSVDINNEVTSLPG
SASSLKAVDIPSFEESNIAVEEEFNQPLSVSNSSLVVRKEPDVPVFFPSGQLAESVSMCL
QTGPTGGASNNSETSEEPKIEHVMQPLLHQPSDNQKIYQDLLGQVNHLLNSSSKETEQPS
TKAVIISHECTRTQNVYHTKKKTHHSRLVDKDCVLNATLKQLRSLGVKIDSPTKVKKNAH
NVDHASVLACISPEAVISGLNCMSFANVGMSGLSPNGVDLSMEANAIALKYLNENQLSQL
SVTRSNQNNCDPFSLLHINTDRSTVGLSLISPNNMSFATKKYMKRYGLLQSSDNSEDEEE
PPDNADSKSEYLLNQNLRSIPEQLGGQKEPSKNDHEIINCSNCESVGTNADTPVLRNITN
EVLQTKAKQQLTEKPAFLVKNLKPSPAVNLRTGKAEFTQHPEKENEGDITIFPESLQPSE
TLKQMNSMNSVGTFLDVKRLRQLPKLF
Sequence length 1287
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mental retardation Severe intellectual disability, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Lymphoblastic leukemia Precursor T-Cell Lymphoblastic Leukemia-Lymphoma, Precursor T-cell acute lymphoblastic leukemia rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699
View all (13 more)
Unknown
Disease term Disease name Evidence References Source
Holoprosencephaly holoprosencephaly GenCC
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Islet Cell Associate 30575306
Adrenocortical Carcinoma Associate 22496620
Ataxia Telangiectasia Associate 22581002
Autosomal Recessive Primary Microcephaly Associate 19215732, 24485834, 32677750
Carcinogenesis Associate 22496620
Carcinoma Non Small Cell Lung Associate 30832674
Chromosome Duplication Associate 29445034, 31197030
Colorectal Neoplasms Inhibit 33958846
Leukemia Associate 1311214
Leukemia T Cell Associate 11390401, 16024801