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Table 1 High-confidence mutations in SH-SY5Y that were rare in the population and also confirmed as somatic in the COSMIC database

From: Systems genomics evaluation of the SH-SY5Y neuroblastoma cell line as a model for Parkinson’s disease

Chromosome:begin-end

COSMIC ID (tissue type)

Genes (or adjacent genes)

2:174118525-174118526

140009 (skin)

MLK7-AS1

3:3965330-3965331

146267 (haematopoietic_and_lymphoid_tissue)

LRRN1(dist = 75944), SETMAR(dist = 379657)

3:97631173-97631174

166940 (large_intestine)

ARL6(dist = 113801), MINA(dist = 29487)

3:97680355-97680356

166941 (large_intestine)

MINA

3:195017896-195017897

212624 (breast)

ACAP2

4:62000660-62000661

200267 (large_intestine)

LOC255130 (dist = 3929195), LPHN3(dist = 362178)

5:40086690-40086691

145684 (haematopoietic_and_lymphoid_tissue)

DAB2(dist = 661356),

PTGER4(dist = 593341)

6:35837057-35837058

167752 (large_intestine)

SRPK1

6:152632032-152632033

167911 (large_intestine)

SYNE1

6:168431497-168431498

85018 (pancreas)

KIF25

7:127075991-127075992

200565 (large_intestine)

ZNF800(dist = 43225), GCC1(dist = 144690)

8:27913552-27913553

1098826, 1098827 (endometrium)

C8orf80

8:38006195-38006196

187133 (large_intestine)

STAR

9:6254465-6254466

1109518 (endometrium)

IL33

11:57734912-57734913

146001 (haematopoietic_and_lymphoid_tissue, large_intestine)

TMX2-CTNND1(dist = 148261), OR9Q1(dist = 56440)

12:7585976-7585977

179792 (large_intestine)

CD163L1

12:11905442-11905443

180918 (large_intestine)

ETV6

12:88344608-88344609

433706 (breast)

MKRN9P(dist = 166121), C12orf50(dist = 29207)

14:72128130-72128131

195414 (large_intestine)

SIPA1L1

16:12798881-12798882

1202185 (large_intestine)

CPPED1

19:11134250-11134251

1161250, 1161251 (haematopoietic_and_lymphoid_tissue)

SMARCA4

X:47039372-47039373

1121715 (endometrium)

RBM10

X:104440586-104440587

487453 (kidney)

IL1RAPL2

  1. Rare mutations are SNVs and small indels that were found in less than 5% of the samples in 1000 Genomes Project, Exome Sequencing Project and Complete Genomics baseline genomes. In the genes column, when distances are given, the mutations are found in intergenic regions and the first gene precedes the mutation whereas the second gene succeeds the mutation.