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Table 11 Table of pathogenic in/dels in Homo sapiens from dbSNP and covering fuzzy tandem repeats.

From: Tandem repeats discovery service (TReaDS) applied to finding novel cis-acting factors in repeat expansion diseases

Gene/Protein

Seq length

Num. path. in/dels

Covered by FTR

FTR

 

CFTR/MRP

1000 (*)

2

0

-

 

OTC

1000 (*)

3

2

[117 - 883],

[429 - 569]

OTC

1647

30

0

-

 

HS mitochondrion

16569

1

0

-

 

NSDHL

1581

2

0

-

 

GJB1

1623

2

1

[319-373]

 

SLC16A2

4396

2

0

-

 

SLC6A8

3580

2

0

-

 

CACNA1F

6080

1

0

-

 

FLNA

8533

1

1

[280 329]

 

KCNQ2

3158

21

5

[162-275]

[1666-1691]

    

[2188-2214]

[2654-2728]

  1. Table of pathogenic in/dels in Homo sapiens from dbSNP and covering fuzzy tandem repeats. The table reports: gene/protein code, NCBI code for the analyzed sequence, sequence length, codes of pathogenic in/del, number of pathogenic in/dels covered by FTR, FTR [Begin - End] if existing. (*) indicates that the analysis has been done on a subsequence of length 1000 centered on the position of each in/del.