Information on SLC7A7
Basic details
Alt. symbols: LPI | y+LAT-1
Approved name: solute carrier family 7 member 7
Alt. names: solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
Location: 14q11.2: 22773222 - 22829820 (-)
Gene type: protein_coding, 24 transcripts.
Scores: LoFtool: 0.114000 | pLI: 0.00209119 | LOEUF: 0.959
Normal function
Dysfunction and disease
Lysinuric protein intolerance [MIM:222700] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
FHL7 |
Lysinuric protein intolerance | AR |
222700 |
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 SLC7A7
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000397528.8 | 1 | CCDS9574 | protein_coding | 11 | No | 2098 | NM_001126105 | |
| 201 | ENST00000285850.11 | CCDS9574 | protein_coding | 11 | No | 2263 | NM_001126106 | ||
| 222 | ENST00000674313.1 | 3 | CCDS9574 | Select | protein_coding | 10 | Yes | 2082 | NM_003982 |
| 215 | ENST00000555702.5 | 2 | CCDS9574 | protein_coding | 11 | No | 2272 | NM_001126106 | |
| 203 | ENST00000397529.6 | CCDS9574 | protein_coding | 10 | No | 2094 | XM_011537299 |
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 SLC7A7
| ID | Year | Title | Journal | PMID | Variants |
|---|