Overview

Location [1]
5q23.2
Protein [2]
Synphilin-1
Synonyms [1]
SYPH1, Sph1

Synuclein alpha interacting protein (SNCAIP) is a gene that encodes a protein that functions in neuronal tissue and may play a role in neurodegeneration. Missense mutations, synonymous mutations, and nonsense mutations are observed in cancers such as skin cancer, parathyroid cancer, and stomach cancer.

SNCAIP is altered in 3.11% of all cancers with cutaneous melanoma, melanoma, colon adenocarcinoma, breast invasive ductal carcinoma, and desmoplastic melanoma having the greatest prevalence of alterations [3].

SNCAIP GENIE Cases - Top Diseases

The most common alterations in SNCAIP are SNCAIP Mutation (3.06%), SNCAIP K230E (0.15%), SNCAIP P734S (0.09%), SNCAIP D419N (0.10%), and SNCAIP E627K (0.10%) [3].

SNCAIP GENIE Cases - Top Alterations

Significance of SNCAIP in Diseases

Medulloblastoma +

Medulloblastoma, Non-WNT/Non-SHH +

Central Nervous System Embryonal Neoplasm +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Desmoplastic/Nodular Medulloblastoma +

Large Cell/Anaplastic Medulloblastoma +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Atypical Teratoid/Rhabdoid Tumor +

High-Grade Glioma, NOS +

Anaplastic Ependymoma +

Diffuse Glioma +

Glioblastoma +

Malignant Glioma +

Anaplastic Astrocytoma +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Oligodendroglioma +

Anaplastic Oligodendroglioma, IDH-Mutant And 1p/19q-Codeleted +

Anaplastic Pleomorphic Xanthoastrocytoma +

Diffuse Midline Glioma, H3 K27M-Mutant +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma +

Ependymoma, RELA Fusion-Positive +

Pineoblastoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.