Table 5 Pfam domains and the undergoing events – Gene & events distribution$
Percent fraction of genes that show the following events with the domain. | Percent fraction of events as per the following types with the domain | ||||
|---|---|---|---|---|---|
Pfam domain | No. of Genes that encode the domain (in how many of these genes, the domain undergoes change) | insertion/deletion Gene-% | Truncation Gene-% | insertion/deletion Event-% | Truncation Event-% |
Pkinase | 149 (139) | 29% | 77% | 27% | 72% |
48 (4) | 2% | 6% | 25% | 75% | |
zf-C2H2 | 138 (106) | 75% | 1% | 98% | 1% |
127 (61) | 48% | 0% | 100% | 0% | |
C1-set | 108 (86) | 37% | 43% | 46% | 53% |
2 (1) | 50% | 0% | 100% | 0% | |
PH | 94 (73) | 62% | 25% | 71% | 28% |
50 (24) | 44% | 12% | 78% | 21% | |
Ank | 67 (55) | 80% | 7% | 91% | 8% |
72 (25) | 34% | 5% | 86% | 13% | |
ig | 62 (52) | 82% | 8% | 91% | 8% |
Not seen in ASD | |||||
fn3 | 59 (49) | 77% | 30% | 71% | 28% |
21 (6) | 28% | 4% | 85% | 14% | |
SPRY | 59 (48) | 77% | 5% | 93% | 6% |
4 (3) | 75% | 0% | 100% | 0% | |
Trypsin | 47 (47) | 42% | 68% | 38% | 61% |
36 (29) | 30% | 55% | 35% | 64% | |
PDZ | 65 (46) | 66% | 27% | 70% | 29% |
42 (20) | 42% | 11% | 78% | 21% | |
zf-C3HC4 | 72 (46) | 61% | 4% | 93% | 6% |
14 (7) | 50% | 0% | 100% | 0% | |
Collagen | 51 (45) | 88% | 37% | 70% | 29% |
12 (8) | 66% | 0% | 100% | 0% | |
KRAB | 90 (43) | 46% | 2% | 95% | 4% |
69 (34) | 49% | 1% | 97% | 2% | |
SH3_1 | 77 (43) | 51% | 9% | 85% | 14% |
45 (4) | 8% | 0% | 100% | 0% | |
WD40 | 48 (43) | 83% | 18% | 81% | 18% |
90 (35) | 38% | 2% | 94% | 5% | |
Sushi | 40 (40) | 97% | 27% | 78% | 22% |
23 (17) | 73% | 4% | 94% | 5% | |
EGF | 48 (40) | 83% | 8% | 90% | 9% |
27 (5) | 18% | 0% | 100% | 0% | |
Ras | 41 (39) | 4% | 92% | 5% | 95% |
Not present in ASD | |||||
Helicase_C | 51 (38) | 62% | 35% | 64% | 36% |
27 (13) | 44% | 11% | 80% | 20% | |
RRM_1 | 43 (38) | 72% | 46% | 60% | 39% |
45 (24) | 46% | 20% | 70% | 30% | |
MHC_I | 50 (35) | 12% | 70% | 14% | 85% |
5 (3) | 0% | 60% | 0% | 100% | |
ABC_tran | 36 (33) | 50% | 80% | 38% | 61% |
18 (13) | 38% | 61% | 38% | 61% | |
zf-B_box | 47 (33) | 46% | 25% | 64% | 35% |
14 (3) | 21% | 0% | 100% | 0% | |
C2 | 44 (32) | 61% | 36% | 62% | 37% |
30 (17) | 53% | 10% | 84% | 15% | |
LIM | 23 (22) | 82% | 39% | 67% | 32% |
27 (20) | 74% | 14% | 83% | 16% | |
Mito_carr | 23 (22) | 91% | 73% | 55% | 44% |
22 (19) | 86% | 59% | 59% | 40% | |