Information on CTPS1
Basic details
Alt. symbols: CTPS | GATD5
Approved name: CTP synthase 1
Alt. names: CTP synthase
Location: 1p34.2: 40979300 - 41012565 (+)
Gene type: protein_coding, 24 transcripts.
Scores: LoFtool: | pLI: 0.93219240 | LOEUF: 0.287
Normal function
Dysfunction and disease
Immunodeficiency 24 [MIM:615897]. Biallelic mutations in CTPS1 are associated with impaired capacity of activated T and B cells to proliferate in response to antigen receptor-mediated activation. As a consequence patients wiht biallelic mutations in CTPS1 are affected by combined immunodeficiency (OMIM: 615897 Immunodeficiency 24). [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD24 |
Immunodeficiency 24 | AR |
615897 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of CTPS1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000372616.1 | CCDS459 | protein_coding | 18 | No | 2037 | XM_047447461 | ||
| 216 | ENST00000649864.1 | protein_coding | 17 | No | 4790 | XM_047447469 | |||
| 214 | ENST00000649124.2 | CCDS459 | protein_coding | 20 | No | 2947 | XM_024453552 | ||
| 205 | ENST00000470271.6 | protein_coding | No | 801 | XM_024453553 | ||||
| 215 | ENST00000649215.1 | protein_coding | 15 | No | 1821 | NM_001301237 | |||
| 217 | ENST00000650070.2 | 1 | CCDS459 | Select | protein_coding | 19 | Yes | 2840 | NM_001905 |
| 211 | ENST00000648020.2 | nonsense_mediated_decay | No | 4006 | XM_024453561 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in CTPS1
| ID | Year | Title | Journal | PMID | Variants |
|---|