Table 4 Extensive Gene Fragmentation/Truncation Frequently Occurs Among Proteins of Extreme Size
Protein | Accession | # of Exons | Nucleotides | Amino Acids | NCBI Loci | Ensembl Loci |
|---|---|---|---|---|---|---|
TTN | Predicted | 312 | 103,020 | 33,921 | 9 | 0 |
SYNE1 | Predicted | 152 | 27,499 | 8798 | 3 | 3 |
OBSCN | Predicted | 106 | 26,424 | 8755 | 5 | 2 |
MACF1 | Predicted | 141 | 23,519 | 7353 | 1 (truncated) | 1 (truncated) |
SYNE2 | Predicted | 116 | 21,767 | 6911 | 1 | 1 |
MUC6 | Predicted | 33 | 19,628 | 5692 | 1 (truncated) | 1 (truncated) |
MDN1 | Predicted | 102 | 17,684 | 5600 | 2 | 2 |
KMT2D | Predicted | 56 | 17,324 | 5584 | 0 | 1 (truncated) |
HMCN1 | Predicted | 107 | 17,839 | 5519 | 9 | 8 |
RNF213 | Predicted | 72 | 17,574 | 5245 | 4 | 3 |
UBR4 | JAA53804.1 | 106 | 15,865 | 5182 | 4 | 4 |
RYR1 | NP_001001534.1 | 106 | 15,384 | 5035 | 3 | 1 (truncated) |
FAT4 | Predicted | 18 | 17,651 | 4983 | 4 | 1 (elongated) |
RYR2 | Predicted | 107 | 16,588 | 4967 | 1 (truncated) | 1 (truncated) |
KMT2C | Predicted | 64 | 15,669 | 4960 | 4 | 3 |
RYR3 | Predicted | 107 | 15,574 | 4870 | 8 | 1 (truncated) |
BIRC6 | Predicted | 78 | 15,159 | 4861 | 2 | 1 (truncated) |
HERC1 | XP_001927286.4 | 80 | 15,199 | 4859 | 2 | 2 |
HERC2 | JAG69485.1 | 98 | 15,070 | 4847 | 2 | 2 |
DNHD1 | XP_013844910.1 | 41 | 16,014 | 4737 | 1 | 1 (truncated) |
DNAH8 | XP_001924974.2 | 97 | 14,418 | 4729 | 1 | 1 |
MYCBP2 | Predicted | 89 | 15,037 | 4675 | 1 (truncated) | 1 (truncated) |
DYNC1H1 | Predicted | 78 | 14,323 | 4646 | 3 | 1 (truncated) |
LRP1B | Predicted | 91 | 16,455 | 4590 | 13 | 3 |
FAT1 | Predicted | 29 | 14,904 | 4588 | 1 | 1 (elongated) |
APOB | Predicted | 31 | 14,158 | 4573 | 4 | 4 |
FAT3 | Predicted | 33 | 18,857 | 4557 | 1 (truncated) | 1 (elongated) |
LRP1 | JAA53703.1 | 89 | 14,074 | 4544 | 2 | 2 |
ABCA13 | Predicted | 75 | 15,009 | 4444 | 3 | 0 |
SACS | Predicted | 12 | 15,381 | 4441 | 4 | 3 |
ANK3 | XP_005671069.1 | 52 | 15,032 | 4376 | 1 | 1 (truncated) |
HUWE1 | Predicted | 91 | 14,590 | 4373 | 1 (elongated) | 2 |
VPS13D | Predicted | 70 | 16,126 | 4364 | 3 | 1 (truncated) |
FAT2 | Predicted | 31 | 14,579 | 4350 | 2 | 1 (truncated) |
PKD1 | NP_001233131.1 | 47 | 14,212 | 4305 | 1 | 1 |
HECTD4 | Predicted | 76 | 19,834 | 4271 | 1 (truncated) | 1 (truncated) |
PRKDC | Predicted | 86 | 14,362 | 4135 | 5 | 2 |
ANK2 | Predicted | 55 | 14,520 | 4100 | 1 (truncated) | 1 (truncated) |
VPS13B | JAG69054.1 | 80 | 13,584 | 3993 | 3 | 3 |
KMT2A | JAG69421.1 | 37 | 16,597 | 3967 | 1 (truncated) | 1 (truncated) |
DNAH12 | Predicted | 78 | 11,946 | 3961 | 3 | 1 (truncated) |
AKAP9 | NP_001240753.1 | 55 | 12,489 | 3898 | 1 | 1 |
LYST | JAA53665.1 | 61 | 12,677 | 3798 | 3 | 1 (truncated) |
MUC4 | XP_005670193.1 | 25 | 11,665 | 3745 | 1 | 1 (truncated) |
ZNF469 | Predicted | 3 | 12,517 | 3736 | 0 | 0 |
VPS13C | JAA53695.1 | 88 | 11,772 | 3714 | 3 | 2 |
ZFHX3 | Predicted | 11 | 15,821 | 3713 | 1 (truncated) | 1 (truncated) |
DMD | NP_001012408.1 | 87 | 13,770 | 3674 | 5 | 2 |
SMG1 | JAG69152.1 | 64 | 15,532 | 3659 | 2 | 0 |
SPEN | JAG69140.1 | 15 | 12,261 | 3655 | 1 (truncated) | 1 (truncated) |
CUBN | Predicted | 71 | 11,536 | 3620 | 4 | 2 |
ZFHX4 | Predicted | 15 | 14,156 | 3611 | 1 (truncated) | 1 (truncated) |
WDFY3 | XP_005656619.1 | 74 | 14,209 | 3594 | 1 | 1 |
USP34 | JAA53700.1 | 80 | 11,327 | 3547 | 3 | 3 |
UTRN | JAA53694.1 | 84 | 10,547 | 3432 | 4 | 5 |
COL6A3 | XP_013840079.1 | 50 | 13,801 | 3199 | 1 | 1 (truncated) |
VPS13A | Predicted | 76 | 11,078 | 3172 | 2 | 1 |
CEP350 | JAA53656.1 | 40 | 9910 | 3121 | 2 | 2 |
CELSR1 | Predicted | 38 | 11,081 | 3031 | 2 | 1 (truncated) |
FRY | Predicted | 66 | 10,455 | 3016 | 3 | 2 |