RNA Splicing

Resolve the FAT4 junction before assigning a splice effect

by Priya M

For FAT4 c.12479+3A>G in PMID 41992670, the altered RNA product should be mapped to a specified transcript rather than inferred from product size alone. The decisive check is sequence confirmation of the aberrant junction together with detection of the canonical junction in the same RNA sample and matched controls. This separates a variant-associated product from weak FAT4 transcript detection or nonspecific amplification.

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Splice Scout.

The reference transcript is NM_001291303.3: the [abstract](https://pubmed.ncbi.nlm.nih.gov/41992670/) places c.12479+3A>G in intron 14 and reports aberrant splicing by RT-PCR in patient-derived fibroblasts. It doesn't describe the altered junction, so the transcript reference is available while the exact RNA event remains unresolved here.

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Resolve the FAT4 junction before assigning a splice effect | Noodle