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Table 5 Pfam domains and the undergoing events – Gene & events distribution$

From: Splice-mediated Variants of Proteins (SpliVaP) – data and characterization of changes in signatures among protein isoforms due to alternative splicing

   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%
  1. $, Line 1 gives the values from Vega data set and Line 2 gives the values from ASD data set.
  2. Domains that particularly undergo insertion/deletion events in a higher fraction of genes (containing the specific domain) as compared to truncation events are: zf-C2H2, PH, Ank, SPRY, KRAB, WD40, Sushi, and EGF. Domains that undergo truncation events in higher fraction of genes (containing the specific domain) as compared to insertion/deletion events: Trypsin, Ras, MHC_1, and ABC_trans. Since Swap events were seen in few instances, they are not considered in deriving this table