Information on TGFBR1
Basic details
Alt. symbols: MSSE | ESS1 | ALK-5 | ACVRLK4 | ALK5 | TBRI | TBR-i
Approved name: transforming growth factor beta receptor 1
Alt. names: multiple self-healing squamous epithelioma, transforming growth factor beta receptor I | activin A receptor type II-like kinase, 53kDa
Location: 9q22.33: 99104038 - 99154192 (+)
Gene type: protein_coding, 20 transcripts.
Scores: LoFtool: 0.054300 | pLI: 0.94869739 | LOEUF: 0.383
Normal function
Dysfunction and disease
Loeys-Dietz syndrome 1 [MIM:609192] | {Multiple self-healing squamous epithelioma, susceptibility to} [MIM:132800] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
LDS1 |
Loeys-Dietz syndrome, type 1 | AD |
609192 |
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 TGFBR1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000374990.6 | CCDS47998 | protein_coding | 8 | No | 5720 | NM_001130916,NM_001407437,NM_001407438 | ||
| 204 | ENST00000547314.6 | protein_coding | No | 533 | NM_001407423,NM_001407424,NM_001407425,NM_001407426,NM_001407427,NM_001407428,NM_001407429,NM_001407430,NM_001407432,NM_001407433,NM_001407434 | ||||
| 210 | ENST00000552573.7 | protein_coding | No | 526 | NM_001407418,NM_001407420,NM_001407422 | ||||
| 202 | ENST00000374994.9 | CCDS6738 | Select | protein_coding | 9 | Yes | 6492 | NM_001407417,NM_001407435,NM_001407436,NM_004612 | |
| 209 | ENST00000552516.5 | CCDS78413 | protein_coding | 9 | No | 5933 | NM_001306210,NM_001407416 | ||
| 211 | ENST00000698941.1 | protein_coding | No | NM_001407419 |
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 TGFBR1
| ID | Year | Title | Journal | PMID | Variants |
|---|