TICRR

TOPBP1 interacting checkpoint and replication regulator

Basic information

Region (hg38): 15:89575469-89631056

Previous symbols: [ "C15orf42" ]

Links

ENSG00000140534NCBI:90381OMIM:613298HGNC:28704Uniprot:Q7Z2Z1AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TICRR gene.

  • not_specified (303 variants)
  • not_provided (10 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TICRR gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152259.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
3
clinvar
2
clinvar
5
missense
282
clinvar
21
clinvar
3
clinvar
306
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 282 24 5
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TICRRprotein_codingprotein_codingENST00000268138 2255575
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
7.21e-141.0012559801501257480.000597
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-1.4511501.02e+31.130.000052912306
Missense in Polyphen257262.690.978353331
Synonymous-1.594454041.100.00002193938
Loss of Function4.513679.40.4540.00000445941

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001190.00118
Ashkenazi Jewish0.000.00
East Asian0.0004430.000435
Finnish0.001600.00129
European (Non-Finnish)0.0005680.000545
Middle Eastern0.0004430.000435
South Asian0.0003720.000359
Other0.001360.00130

dbNSFP

Source: dbNSFP

Function
FUNCTION: Regulator of DNA replication and S/M and G2/M checkpoints. Regulates the triggering of DNA replication initiation via its interaction with TOPBP1 by participating in CDK2-mediated loading of CDC45L onto replication origins. Required for the transition from pre-replication complex (pre-RC) to pre- initiation complex (pre-IC). Required to prevent mitotic entry after treatment with ionizing radiation. {ECO:0000269|PubMed:20116089}.;

Intolerance Scores

loftool
rvis_EVS
1.27
rvis_percentile_EVS
93.64

Haploinsufficiency Scores

pHI
0.662
hipred
N
hipred_score
0.233
ghis
0.568

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
E
essential_gene_gene_trap
E
gene_indispensability_pred
gene_indispensability_score

Gene Damage Prediction

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Ticrr
Phenotype
integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan);

Zebrafish Information Network

Gene name
ticrr
Affected structure
trunk
Phenotype tag
abnormal
Phenotype quality
curved dorsal

Gene ontology

Biological process
formation of translation preinitiation complex;DNA replication;DNA repair;mitotic cell cycle checkpoint;response to ionizing radiation;regulation of DNA-dependent DNA replication initiation;mitotic DNA replication checkpoint
Cellular component
nucleus;nucleoplasm
Molecular function
chromatin binding;protein binding