Leiden Muscular Dystrophy pages

Titin gene (TTN) splice index

(last modified March 22, 2016)


Contents


It has been hypothesized that the functional consequence of variants in the titin gene (TTN) is associated with how frequent the exon containing the variant is present in titin transcripts and therefore the fraction of titin protein produced. A tabular overview of the exon inclusion in TTN transcripts was recently published by Roberts et al. (2015).

Exon Function Exon inclusion heart (%) Exon inclusion (%)
1 5'UTR 1.00 1.00
2 Z-disk: Ig-like 1 1.00 1.00
3 Z-disk: Ig-like 1 1.00 1.00
4 Z-disk: Ig-like 2 1.00 1.00
5 Z-disk 1.00 1.00
6 Z-disk 1.00 1.00
7 Z-disk 1.00 1.00
8 Z-disk: Z-repeat 1 1.00 1.00
9 Z-disk: Z-repeat 2 1.00 1.00
10 Z-disk: Z-repeat 3 1.00 1.00
11 Z-disk: Z-repeat 4 0.51 0.63
12 Z-disk: Z-repeat 5 0.79 0.75
13 Z-disk: Z-repeat 6 0.96 0.95
14 Z-disk: Z-repeat 7 1.00 1.00
15 Z-disk 0.99 0.99
16 near Z-disk 0.99 1.00
17 near Z-disk 0.99 1.00
18 near Z-disk: Ig-like 3 1.00 1.00
19 near Z-disk 1.00 1.00
20 near Z-disk: Ig-like 4 1.00 1.00
21 near Z-disk: Ig-like 4 1.00 1.00
22 near Z-disk 1.00 1.00
23 near Z-disk: Ig-like 5 1.00 0.99
24 near Z-disk: Ig-like 5 1.00 0.99
25 near Z-disk: Ig-like 6 1.00 1.00
26 near Z-disk: Ig-like 6 1.00 1.00
27 near Z-disk: Ig-like 7 1.00 1.00
28 near Z-disk / I-band: Ig-like 7/8/9/10 1.00 1.00
29 I-band: Ig-like 11 1.00 1.00
30 I-band: Ig-like 12 1.00 1.00
31 I-band: Ig-like 13 1.00 1.00
32 I-band: Ig-like 14 1.00 1.00
33 I-band 1.00 1.00
34 I-band: Ig-like 15 1.00 1.00
35 I-band 1.00 1.00
36 I-band 1.00 1.00
37 I-band: Ig-like 16 1.00 1.00
38 I-band: Ig-like 17 1.00 1.00
39 I-band: Ig-like 18 1.00 1.00
40 I-band: Ig-like 18 1.00 1.00
41 I-band 1.00 1.00
42 I-band: Ig-like 19 1.00 1.00
43 I-band: Ig-like 20 1.00 1.00
44 I-band: Ig-like 20 1.00 1.00
45 Novex-1 0.01 0.05
46 Novex-2 0.04 0.14
47 I-band 1.00 1.00
48 Novex-3 0.82 0.89
49 N2B unique, I-band: Ig-like 21/22/23 1.00 0.95
50 I-band: Ig-like 24 1.00 1.00
51 I-band: Ig-like 25/26 0.33 0.46
52 I-band: Ig-like 27 0.15 0.29
53 I-band: Ig-like 28 0.10 0.23
54 I-band: Ig-like 29 0.07 0.14
55 I-band: Ig-like 30 0.06 0.13
56 I-band: Ig-like 31 0.06 0.17
57 I-band: Ig-like 32 0.07 0.16
58 I-band: Ig-like 33 0.07 0.20
59 I-band: Ig-like 34 0.08 0.21
60 I-band: Ig-like 35 0.20 0.35
61 I-band: Ig-like 36 0.35 0.51
62 I-band: Ig-like 37 0.32 0.50
63 I-band: Ig-like 38 0.06 0.16
64 I-band: Ig-like 39 0.07 0.21
65 I-band: Ig-like 40 0.08 0.22
66 I-band: Ig-like 41 0.04 0.13
67 I-band: Ig-like 42 0.07 0.18
68 I-band: Ig-like 43 0.06 0.17
69 I-band: Ig-like 44 0.06 0.19
70 I-band: Ig-like 45 0.52 0.69
71 I-band: Ig-like 46 0.46 0.61
72 I-band: Ig-like 47 0.46 0.59
73 I-band: Ig-like 48 0.26 0.49
74 I-band: Ig-like 49 0.25 0.51
75 I-band: Ig-like 50 0.34 0.55
76 I-band: Ig-like 51 0.32 0.55
77 I-band: Ig-like 52 0.56 0.76
78 I-band: Ig-like 53 0.33 0.61
79 I-band: Ig-like 54 0.35 0.65
80 I-band: Ig-like 55 0.41 0.76
81 I-band: Ig-like 56 0.41 0.75
82 I-band: Ig-like 57 0.46 0.76
83 I-band: Ig-like 58 0.48 0.77
84 I-band: Ig-like 59 0.07 0.37
85 I-band: Ig-like 60 0.03 0.29
86 I-band: Ig-like 61 0.04 0.28
87 I-band: Ig-like 62 0.04 0.35
88 I-band: Ig-like 63 0.04 0.33
89 I-band: Ig-like 64 0.08 0.37
90 I-band: Ig-like 65 0.59 0.79
91 I-band: Ig-like 66 0.54 0.81
92 I-band: Ig-like 67 0.60 0.83
93 I-band: Ig-like 68 0.62 0.85
94 I-band: Ig-like 69 0.60 0.85
95 I-band: Ig-like 70 0.64 0.85
96 I-band: Ig-like 71 0.63 0.85
97 I-band: Ig-like 72 0.61 0.84
98 I-band: Ig-like 73 0.66 0.87
99 I-band: Ig-like 74 0.66 0.87
100 I-band: Ig-like 75 0.69 0.87
101 I-band: Ig-like 76 0.72 0.90
102 N2A unique, I-band: Ig-like 77 0.72 0.88
103 N2A unique, I-band: Ig-like 77 0.75 0.89
104 N2A unique, I-band 0.76 0.90
105 N2A unique, I-band 0.75 0.90
106 N2A unique, I-band 0.70 0.90
107 N2A unique, I-band: Ig-like 78 0.73 0.90
108 N2A unique, I-band: Ig-like 79 0.74 0.91
109 N2A unique, I-band: Ig-like 79 0.74 0.92
110 I-band 0.74 0.91
111 I-band 0.80 0.93
112 I-band 0.82 0.93
113 I-band 0.80 0.91
114 I-band 0.75 0.90
115 I-band 0.74 0.85
116 I-band 0.75 0.88
117 I-band 0.63 0.85
118 I-band 0.59 0.85
119 I-band 0.57 0.79
120 I-band 0.56 0.79
121 I-band: PEVK 1 0.58 0.79
122 I-band: PEVK 2 0.54 0.76
123 I-band: PEVK 3 0.78 0.88
124 I-band: PEVK 4 0.22 0.45
125 I-band: PEVK 5 0.25 0.46
126 I-band: PEVK 6 0.15 0.37
127 I-band 0.15 0.33
128 I-band 0.28 0.47
129 I-band 0.28 0.48
130 I-band 0.09 0.38
131 low caridac expression?, I-band: PEVK 7 0.10 0.25
132 low caridac expression?, I-band: PEVK 8 0.06 0.25
133 low caridac expression?, I-band 0.10 0.21
134 I-band: PEVK 9 0.12 0.25
135 I-band: PEVK 10 0.26 0.43
136 I-band: PEVK 11 0.76 0.86
137 I-band 0.77 0.87
138 I-band 0.04 0.07
139 low caridac expression?, I-band 0.01 0.05
140 low caridac expression?, I-band 0.01 0.05
141 low caridac expression?, I-band 0.01 0.05
142 low caridac expression?, I-band: PEVK 10 0.01 0.06
143 low caridac expression?, I-band: PEVK 11 0.02 0.06
144 I-band: PEVK 12 0.74 0.88
145 I-band: PEVK 13 0.69 0.83
146 I-band: PEVK 14 0.68 0.86
147 low caridac expression?, I-band 0.02 0.10
148
0.02 0.07
149 low caridac expression?, I-band 0.03 0.11
150
0.01 0.05
151 I-band 0.20 0.21
152 I-band 0.54 0.79
153 I-band 0.48 0.75
154 I-band 0.10 0.27
155 low caridac expression?, I-band 0.03 0.14
156 low caridac expression?, I-band 0.02 0.11
157 low caridac expression?, I-band: PEVK 15 0.05 0.16
158 I-band: PEVK 16 0.30 0.66
159
0.01 0.06
160
0.01 0.07
161
0.03 0.06
162
0.02 0.05
163
0.01 0.05
164
0.00 0.05
165
0.03 0.06
166
0.03 0.05
167
0.02 0.05
168
0.03 0.09
169
0.02 0.07
170
0.02 0.08
171
0.01 0.07
172
0.01 0.05
173
0.07 0.28
174
0.03 0.10
175 I-band 0.51 0.51
176
0.01 0.04
177
0.06 0.05
178
0.02 0.03
179
0.01 0.04
180
0.05 0.04
181
0.02 0.01
182 I-band: PEVK 17 0.08 0.11
183 I-band: PEVK 18 0.04 0.08
184
0.22 0.35
185
0.01 0.03
186
0.07 0.04
187
0.05 0.03
188
0.03 0.04
189
0.07 0.04
190
0.03 0.01
191
0.04 0.12
192
0.02 0.10
193
0.13 0.42
194
0.00 0.05
195
0.05 0.08
196
0.03 0.10
197
0.02 0.08
198
0.07 0.07
199
0.03 0.05
200
0.02 0.06
201
0.00 0.03
202
0.00 0.03
203 I-band: PEVK 19 0.03 0.08
204 I-band: PEVK 20 0.08 0.25
205 I-band: PEVK 21 0.06 0.43
206 I-band 0.05 0.49
207 I-band 0.08 0.39
208 I-band: PEVK 22 0.09 0.32
209 I-band 0.10 0.36
210 I-band: PEVK 23 0.07 0.34
211 I-band: PEVK 24 0.07 0.25
212 I-band: PEVK 25 0.08 0.24
213
0.03 0.16
214
0.02 0.18
215
0.02 0.18
216
0.01 0.10
217
0.01 0.14
218 I-band 0.03 0.23
219 I-band: PEVK 26 0.04 0.17
220 I-band: PEVK 27 1.00 0.96
221 I-band: PEVK 28 1.00 0.95
222 I-band 1.00 0.95
223 I-band: PEVK 29 1.00 0.95
224 I-band: PEVK 30 1.00 0.96
225 I-band: PEVK 31 0.79 0.73
226 I-band: Ig-like 80 1.00 0.99
227 I-band: Ig-like 81 1.00 0.99
228 I-band: Ig-like 82 1.00 0.98
229 I-band 1.00 0.98
230 I-band 1.00 0.97
231 I-band 1.00 0.98
232 I-band: Ig-like 83 1.00 0.98
233 I-band: Ig-like 84 1.00 0.98
234 I-band 1.00 0.97
235 I-band 1.00 0.97
236 I-band: Ig-like 85 1.00 0.98
237 I-band 1.00 0.98
238 I-band: Ig-like 86 1.00 0.96
239 I-band 1.00 0.96
240 I-band 1.00 0.96
241 I-band: Ig-like 87 1.00 0.96
242 I-band: Ig-like 87 1.00 0.96
243 I-band: Ig-like 88 0.59 0.69
244 I-band: Ig-like 89 1.00 0.96
245 I-band: Ig-like 89 1.00 0.96
246 I-band: Ig-like 90 1.00 0.97
247 I-band: Ig-like 91 1.00 0.96
248 I-band: Ig-like 92 1.00 0.97
249 I-band: Ig-like 93/94 1.00 0.96
250 I-band: Ig-like 94 1.00 0.97
251 I-band 1.00 0.97
252 I-band: Ig-like 95 1.00 0.89
253 A-band: fibronectin type-III 1 1.00 0.91
254 A-band: fibronectin type-III 2 1.00 0.92
255 A-band: fibronectin type-III 3 1.00 0.86
256 A-band: fibronectin type-III 3 1.00 0.84
257 A-band 1.00 0.86
258 A-band: fibronectin type-III 4 1.00 0.86
259 A-band: fibronectin type-III 4 1.00 0.85
260 A-band: fibronectin type-III 5 1.00 0.96
261 A-band: fibronectin type-III 5 1.00 0.82
262 A-band: Ig-like 96 1.00 0.93
263 A-band: fibronectin type-III 6 1.00 0.96
264 A-band: fibronectin type-III 7 1.00 0.95
265 A-band: fibronectin type-III 7 1.00 0.96
266 A-band: fibronectin type-III 8 1.00 0.95
267 A-band: fibronectin type-III 9 1.00 0.93
268 A-band: fibronectin type-III 10 1.00 0.93
269 A-band: fibronectin type-III 10 1.00 0.94
270 A-band: fibronectin type-III 11 1.00 0.94
271 A-band: Ig-like 97 1.00 0.94
272 A-band: fibronectin type-III 12 1.00 0.95
273 A-band: fibronectin type-III 13 1.00 0.95
274 A-band: Ig-like 98 1.00 0.95
275 A-band: fibronectin type-III 14 1.00 0.94
276 A-band: fibronectin type-III 15 1.00 0.96
277 A-band: fibronectin type-III 16 1.00 0.93
278 A-band: Ig-like 99 1.00 0.94
279 A-band: fibronectin type-III 17 1.00 0.93
280 A-band: fibronectin type-III 18 1.00 0.93
281 A-band: Ig-like 100 1.00 0.93
282 A-band: fibronectin type-III 19 1.00 0.93
283 A-band: fibronectin type-III 20 1.00 0.94
284 A-band: fibronectin type-III 21 1.00 0.89
285 A-band: Ig-like 101 1.00 0.90
286 A-band: Ig-like 101 1.00 0.87
287 A-band: Ig-like 101 1.00 0.90
288 A-band: fibronectin type-III 22 1.00 0.91
289 A-band: fibronectin type-III 23 1.00 0.89
290 A-band: Ig-like 102 1.00 0.96
291 A-band: fibronectin type-III 24 1.00 0.93
292 A-band: fibronectin type-III 25 1.00 0.94
293 A-band: fibronectin type-III 26 1.00 0.95
294 A-band: fibronectin type-III 26 1.00 0.96
295 A-band: Ig-like 103 1.00 1.00
296 A-band: fibronectin type-III 27 1.00 0.92
297 A-band: fibronectin type-III 28 1.00 0.90
298 A-band: Ig-like 104 1.00 0.90
299 A-band: fibronectin type-III 29 1.00 0.89
300 A-band: fibronectin type-III 30 1.00 0.90
301 A-band: fibronectin type-III 31 1.00 0.90
302 A-band: Ig-like 105 1.00 0.90
303 A-band: fibronectin type-III 32 1.00 0.91
304 A-band: fibronectin type-III 33 1.00 0.92
305 A-band: Ig-like 106, fibronectin type-III 34/35/36, Ig-like 107, fibronectin type-III 37/38, Ig-like 108, fibronectin type-III 39/40 1.00 0.97
306 A-band: fibronectin type-III 41 1.00 0.90
307 A-band: Ig-like 109 1.00 0.91
308 A-band: fibronectin type-III 42 1.00 0.92
309 A-band: fibronectin type-III 43 1.00 0.91
310 A-band: Ig-like 110 1.00 0.91
311 A-band: fibronectin type-III 44 1.00 0.91
312 A-band: fibronectin type-III 45 1.00 0.92
313 A-band: fibronectin type-III 46 1.00 0.90
314 A-band: Ig-like 111 1.00 0.89
315 A-band: fibronectin type-III 47 1.00 0.88
316 A-band: fibronectin type-III 48 1.00 0.86
317 A-band: fibronectin type-III 49 1.00 0.88
318 A-band: Ig-like 112 1.00 0.91
319 A-band: fibronectin type-III 50 1.00 0.92
320 A-band: fibronectin type-III 51 1.00 0.92
321 A-band 1.00 0.92
322 A-band: fibronectin type-III 52 1.00 0.91
323 A-band: fibronectin type-III 53 1.00 0.91
324 A-band: fibronectin type-III 54 1.00 0.91
325 A-band: Ig-like 113, fibronectin type-III 55 1.00 0.93
326 A-band: fibronectin type-III 56 1.00 0.94
327 A-band: fibronectin type-III 57, Ig-like 114, fibronectin type-III 58/59, Ig-like 115, fibronectin type-III 60/61/62, Ig-like 116, fibronectin type-III 63/64/65, Ig-like 117, fibronectin type-III 66/67, Ig-like 118, fibronectin type-III 68/69/70, Ig-like 119, fibronectin type-III 71/72/73, Ig-like 120, fibronectin type-III 74/75, Ig-like 121, fibronectin type-III 76/77/78, Ig-like 122, fibronectin type-III 79/80/81, Ig-like 123, fibronectin type-III 82/83, Ig-like 124, fibronectin type-III 84/85/86, Ig-like 125, fibronectin type-III 87/88/89, Ig-like 126, fibronectin type-III 90/91, Ig-like 127, fibronectin type-III 92/93/94, Ig-like 128, fibronectin type-III 96/96/97, Ig-like 129, fibronectin type-III 98 1.00 0.95
328 A-band: fibronectin type-III 99 1.00 0.96
329 A-band: fibronectin type-III 100 1.00 0.95
330 A-band: fibronectin type-III 101 1.00 0.96
331 A-band: fibronectin type-III 102 1.00 0.96
332 A-band: Ig-like 130 1.00 0.96
333 A-band: fibronectin type-III 103 1.00 0.96
334 A-band: fibronectin type-III 104 1.00 0.97
335 A-band: fibronectin type-III 105 1.00 0.97
336 A-band: Ig-like 131, fibronectin type-III 106/107, Ig-like 132, fibronectin type-III 108/109 1.00 0.97
337 A-band: fibronectin type-III 110 1.00 0.98
338 A-band: Ig-like 133 1.00 0.98
339 A-band: fibronectin type-III 111 1.00 0.98
340 A-band: fibronectin type-III 112/113, Iglike 134, fibronectin type-III 114/115, Ig-like 135, fibronectin type-III 116 1.00 0.98
341 A-band: fibronectin type-III 117 1.00 0.98
342 A-band: fibronectin type-III 118 1.00 0.98
343 A-band: Ig-like 136 1.00 0.98
344 A-band: fibronectin type-III 119 1.00 0.99
345 A-band: fibronectin type-III 120 1.00 0.99
346 A-band: fibronectin type-III 121 1.00 0.99
347 A-band: Ig-like 137 1.00 0.99
348 A-band: fibronectin type-III 122/123 1.00 0.99
349 A-band: Ig-like 138 1.00 0.99
350 A-band: fibronectin type-III 124 1.00 1.00
351 A-band: fibronectin type-III 125 1.00 0.98
352 A-band: fibronectin type-III 126 1.00 1.00
353 A-band: Ig-like 139, fibronectin type-III 127 1.00 1.00
354 A-band: fibronectin type-III 128 1.00 1.00
355 A-band: fibronectin type-III 129 1.00 1.00
356 A-band: Ig-like 140 1.00 1.00
357 A-band: fibronectin type-III 130 1.00 0.99
358 A-band: fibronectin type-III 131, Ig-like 141 1.00 0.99
359 M-band: Ig-like 142, fibronectin type-III 132, protein kinase, Ig-like 143/144/145/146/147/148 1.00 1.00
360 M-band: Ig-like 149 1.00 0.99
361 M-band: Ig-like 150 1.00 0.99
362 M-band: Ig-like 151 1.00 1.00
363 M-band 0.99 0.99
364 M-band: Ig-like 152 1.00 1.00

Legend:
Exon = titin gene (TTN) exon number.  Function = position in the RNA or protein (: protein domain) in the titin protein.  Exon inclusion heart (%)  =  fraction of titin transcripts in the heart of patients with dilated cardiomyopathy containing the exon.   Exon inclusion (%)  =  fraction of titin transcripts in the heart of unselected donors hearts containing the exon.