TICRR
Basic information
Region (hg38): 15:89575469-89631056
Previous symbols: [ "C15orf42" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- 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.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 5 | |||||
missense | 282 | 21 | 306 | |||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 282 | 24 | 5 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
TICRR | protein_coding | protein_coding | ENST00000268138 | 22 | 55575 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
7.21e-14 | 1.00 | 125598 | 0 | 150 | 125748 | 0.000597 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -1.45 | 1150 | 1.02e+3 | 1.13 | 0.0000529 | 12306 |
Missense in Polyphen | 257 | 262.69 | 0.97835 | 3331 | ||
Synonymous | -1.59 | 445 | 404 | 1.10 | 0.0000219 | 3938 |
Loss of Function | 4.51 | 36 | 79.4 | 0.454 | 0.00000445 | 941 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00119 | 0.00118 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000443 | 0.000435 |
Finnish | 0.00160 | 0.00129 |
European (Non-Finnish) | 0.000568 | 0.000545 |
Middle Eastern | 0.000443 | 0.000435 |
South Asian | 0.000372 | 0.000359 |
Other | 0.00136 | 0.00130 |
dbNSFP
Source:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | High | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
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