CHAMP1 (chromosome alignment maintaining phosphoprotein 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 283489
Gene name Chromosome alignment maintaining phosphoprotein 1
Gene symbol CHAMP1
Synonyms (NCBI Gene)
C13orf8CAMPCHAMPMRD40NEDHILDZNF828
Chromosome 13
Chromosome location 13q34
Summary This gene encodes a zinc finger protein that functions as a regulator of chromosome segregation in mitosis. The encoded protein is required for correct alignment of chromosomes on the metaphase plate, and plays a role in maintaining the attachment of sist
SNPs SNP information provided by dbSNP.
22
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (22)
SNP ID Visualize variation Clinical significance Consequence
rs200070245 C>A,T Pathogenic Stop gained, coding sequence variant, missense variant
rs782397980 C>G,T Pathogenic Coding sequence variant, missense variant, stop gained
rs797044961 C>- Pathogenic Coding sequence variant, frameshift variant
rs797044962 C>T Pathogenic Coding sequence variant, stop gained
rs797044963 CA>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
6
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
miRTarBase ID miRNA Experiments Reference
MIRT019662 hsa-miR-378a-3p Sequencing 20371350
MIRT023605 hsa-miR-1-3p Proteomics 18668040
MIRT025705 hsa-miR-7-5p Microarray 19073608
MIRT027275 hsa-miR-101-3p Sequencing 20371350
MIRT039717 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (27)
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IDA 21063390
GO:0000776 Component Kinetochore IEA
GO:0000793 Component Condensed chromosome IDA 21063390
GO:0005515 Function Protein binding IPI 20850016, 21063390, 26496610, 29656893, 29789392
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616327 20311 ENSG00000198824
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96JM3
Protein name Chromosome alignment-maintaining phosphoprotein 1 (Zinc finger protein 828)
Protein function Required for proper alignment of chromosomes at metaphase and their accurate segregation during mitosis. Involved in the maintenance of spindle microtubules attachment to the kinetochore during sister chromatid biorientation. May recruit CENPE a
PDB 5XPT , 5XPU , 6EKJ , 6EKL
Family and domains
Sequence 
MEAFQELRKPSARLECDHCSFRGTDYENVQIHMGTIHPEFCDEMDAGGLGKMIFYQKSAK
LFHCHKCFFTSKMYSNVYYHITSKHASPDKWNDKPKNQLNKETDPVKSPPLPEHQKIPCN
SAEPKSIPALSMETQKLGSVLSPESPKPTPLTPLEPQKPGSVVSPELQTPLPSPEPSKPA
SVSSPEPPKSVPVCESQKLAPVPSPEPQKPAPVSPESVKATLSNPKPQKQSHFPETLGPP
SASSPESPVLAASPEPWGPSPAASPESRKSARTTSPEPRKPSPSESPEPWKPFPAVSPEP
RRPAPAVSPGSWKPGPPGSPRPWKSNPSASSGPWKPAKPAPSVSPGPWKPIPSVSPGPWK
PTPSVSSASWKSSSVSPSSWKSPPASPESWKSGPPELRKTAPTLSPEHWKAVPPVSPELR
KPGPPLSPEIRSPAGSPELRKPSGSPDLWKLSPDQRKTSPASLDFPESQKSSRGGSPDLW
KSSFFIEPQKPVFPETRKPGPSGPSESPKAASDIWKPVLSIDTEPRKPALFPEPAKTAPP
ASPEARKRALFPEPRKHALFPELPKSALFSESQKAVELGDELQIDAIDDQKCDILVQEEL
LASPKKLLEDTLFPSSKKLKKDNQESSDAELSSSEYIKTDLDAMDIKGQESSSDQEQVDV
ESIDFSKENKMDMTSPEQSRNVLQFTEEKEAFISEEEIAKYMKRGKGKYYCKICCCRAMK
KGAVLHHLVNKHNVHSPYKCTICGKAFLLESLLKNHVAAHGQSLLKCPRCNFESNFPRGF
KKHLTHCQSRHNEEANKKLMEALEPPLEEQQI
Sequence length 812
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
CHAMP1-related syndrome Pathogenic; Likely pathogenic rs879255261, rs863225077, rs863225075, rs863225074, rs886041988, rs1555379525, rs1555379968, rs1594131663, rs1594129609, rs782465797 RCV001265375
RCV001265231
RCV001265373
RCV001265233
RCV001265374
View all (5 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability Pathogenic rs2087240702, rs2087233948 RCV001261375
RCV001528191
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
intellectual disability with severe speech impairment Pathogenic rs797044961, rs797044962, rs200070245, rs797044963 RCV000190451
RCV000190452
RCV000190453
RCV000190454
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal dominant 40 Pathogenic; Likely pathogenic rs2139419839, rs2139419099, rs2139422391, rs2139421634, rs2139421763, rs2139420056, rs2139422092, rs2139419505, rs2503198180, rs797044961, rs797044962, rs200070245, rs797044963, rs879255261, rs863225077
View all (10 more)		 RCV001729905
RCV001375979
RCV001788507
RCV001780493
RCV001823054
View all (20 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (10)
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
Acute myeloid leukemia Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY — Disgenet, GWAS catalog
Disgenet, GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHAMP1-related disorder Benign; Uncertain significance; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Complex neurodevelopmental disorder Conflicting classifications of pathogenicity; Likely benign ClinVar
CTD, ClinGen
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Show/Hide Text Mining Associations (274)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acne Acne BEFREE 29964032
★★★★★
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne BEFREE 29964032
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 18544528, 26856247
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 11238464
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 11592775, 20054823
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Cortical Adenoma Adrenocortical adenoma BEFREE 27389594
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 26856247
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis BEFREE 28012697
★★★★★
★☆☆☆☆
Found in Text Mining only
Aggressive Periodontitis Aggressive Periodontitis BEFREE 25330301, 27129587, 27771329
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia BEFREE 27095351
★★★★★
★☆☆☆☆
Found in Text Mining only