Information on TP53
Basic details
Alt. symbols: p53 | LFS1
Approved name: tumor protein p53
Alt. names: Li-Fraumeni syndrome
Location: 17p13.1: 7661779 - 7687546 (-)
Gene type: protein_coding, 33 transcripts.
Scores: LoFtool: 0.000965 | pLI: 0.91222295 | LOEUF: 0.469
Normal function
Dysfunction and disease
Bone marrow failure syndrome 5 [MIM:618165] | {Basal cell carcinoma 7} [MIM:614740] | Nasopharyngeal carcinoma, somatic [MIM:607107] | {Choroid plexus papilloma} [MIM:260500] | Pancreatic cancer [MIM:260350] | {Osteosarcoma} [MIM:259500] | {Adrenocortical carcinoma, pediatric} [MIM:202300] | Li-Fraumeni syndrome [MIM:151623] | {Glioma susceptibility 1} [MIM:137800] | Hepatocellular carcinoma, somatic [MIM:114550] | {Colorectal cancer} [MIM:114500] | Breast cancer, somatic [MIM:114480] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
3954 |
Li-Fraumeni syndrome | AD |
151623 |
0 (0 fams) | |
| 3955 |
Choroid plexus papilloma | AD |
260500 |
0 (0 fams) | |
| 3956 |
Pancreatic cancer, somatic | AD |
260350 |
0 (0 fams) | |
| 3957 |
Osteosarcoma, somatic | AD |
259500 |
0 (0 fams) | |
| 3958 |
Breast cancer, somatic | AD |
114480 |
0 (0 fams) | |
| 3959 |
Hepatocellular carcinoma, somatic | AD |
114550 |
0 (0 fams) | |
| 3961 |
Adrenocortical carcinoma | AD |
202300 |
0 (0 fams) | |
| 3962 |
Colorectal cancer | AD |
114500 |
0 (0 fams) | |
| BMFS5 |
Bone marrow failure syndrome 5 | AD |
618165 |
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 TP53
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 225 | ENST00000620739.4 | CCDS73969 | protein_coding | 11 | No | 2579 | NM_001407267 | ||
| 213 | ENST00000510385.5 | CCDS73968 | protein_coding | 8 | No | 2404 | NM_001126116 | ||
| 220 | ENST00000610538.4 | 4 | CCDS73970 | protein_coding | 12 | No | 2580 | NM_001276695 | |
| 223 | ENST00000619186.4 | CCDS73963 | protein_coding | 7 | No | 2271 | NM_001276697 | ||
| 221 | ENST00000610623.4 | CCDS73964 | protein_coding | 8 | No | 2331 | NM_001276699 | ||
| 208 | ENST00000504290.5 | 7 | CCDS73967 | protein_coding | 8 | No | 2331 | NM_001126117 | |
| 206 | ENST00000455263.6 | CCDS45605 | protein_coding | 12 | No | 2580 | NM_001126113 | ||
| 201 | ENST00000269305.9 | 1 | CCDS11118 | Select | protein_coding | 11 | Yes | 2512 | NM_000546 |
| 226 | ENST00000622645.4 | CCDS73971 | protein_coding | 12 | No | 2653 | NM_001276696,NM_001407269,NM_001407271 | ||
| 204 | ENST00000420246.6 | CCDS45606 | protein_coding | 12 | No | 2653 | NM_001126114,NM_001407268,NM_001407270 | ||
| 219 | ENST00000610292.4 | 8 | CCDS73969 | protein_coding | 10 | No | 2639 | NM_001126118 | |
| 224 | ENST00000619485.4 | CCDS73969 | protein_coding | 11 | No | 2506 | NM_001276760,NM_001276761,NM_001407263,NM_001407265 | ||
| 209 | ENST00000504937.5 | 5 | CCDS73966 | protein_coding | 7 | No | 2271 | NM_001126115 | |
| 211 | ENST00000508793.6 | protein_coding | No | 634 | NM_001407264,NM_001407266 | ||||
| 205 | ENST00000445888.6 | CCDS11118 | protein_coding | 11 | No | 2506 | NM_001126112 | ||
| 222 | ENST00000618944.4 | 6 | CCDS73965 | protein_coding | 8 | No | 2404 | NM_001276698 | |
| 207 | ENST00000503591.2 | protein_coding | No | 565 | NM_001407262 |
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 TP53
| ID | Year | Title | Journal | PMID | Variants |
|---|