Total number of protein in "GO:0140029" GO term: 60
Identifier | UniProt Gene | UniProt Accession | UniProt Name | Chromosome | GO term | Database | Cancer Driver | Number of missense mutations | Missense mutation per residues | Number of disordered residues | Number of mutations in disordered regions | Disordered missense mutations per residues | Number of OMIM mutation |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BLOC1S6_ENST00000220531 | BLOC1S6 | Q9UL45 | Biogenesis of lysosome-related organelles complex 1 subunit 6 | chr15 | GO:0140029 | Not Cancer Driver | No | 12 | 0.07 | 111 | 11 | 0.099 | 0 |
BTK_ENST00000308731 | BTK | Q06187 | Tyrosine-protein kinase BTK | chrX | GO:0140029 | Census, Compendium | Yes | 147 | 0.223 | 114 | 27 | 0.237 | 110 |
CFTR | CFTR | P13569 | Cystic fibrosis transmembrane conductance regulator | chr7 | GO:0140029 | Not Cancer Driver | No | 287 | 0.194 | 145 | 18 | 0.124 | 151 |
CPLX2_ENST00000515094 | CPLX2 | Q6PUV4 | Complexin-2 | chr5 | GO:0140029 | Not Cancer Driver | No | 27 | 0.201 | 134 | 27 | 0.201 | 0 |
CTBP2_ENST00000494626 | CTBP2 | P56545 | C-terminal-binding protein 2 | chr10 | GO:0140029 | Not Cancer Driver | No | 48 | 0.108 | 94 | 4 | 0.043 | 0 |
DMTN_ENST00000358242 | DMTN | Q08495 | Dematin | chr8 | GO:0140029 | Not Cancer Driver | No | 53 | 0.131 | 348 | 46 | 0.132 | 0 |
ERC2_ENST00000612797 | ERC2 | O15083 | ERC protein 2 | chr3 | GO:0140029 | Not Cancer Driver | No | 261 | 0.273 | 845 | 242 | 0.286 | 0 |
KCNB1_ENST00000635465 | KCNB1 | Q14721 | Potassium voltage-gated channel subfamily B member 1 | chr20 | GO:0140029 | Not Cancer Driver | No | 192 | 0.224 | 417 | 100 | 0.24 | 6 |
LYN | LYN | P07948 | Tyrosine-protein kinase Lyn | chr8 | GO:0140029 | Census | Yes | 95 | 0.186 | 84 | 12 | 0.143 | 0 |
NAPA | NAPA | P54920 | Alpha-soluble NSF attachment protein | chr19 | GO:0140029 | Not Cancer Driver | No | 33 | 0.112 | 11 | 0 | 0.0 | 0 |
NLGN1_ENST00000361589 | NLGN1 | Q8N2Q7 | Neuroligin-1 | chr3 | GO:0140029 | Not Cancer Driver | No | 214 | 0.248 | 248 | 61 | 0.246 | 4 |
OTOF | OTOF | Q9HC10 | Otoferlin | chr2 | GO:0140029 | Not Cancer Driver | No | 380 | 0.19 | 591 | 124 | 0.21 | 14 |
P2RX1 | P2RX1 | P51575 | P2X purinoceptor 1 | chr17 | GO:0140029 | Not Cancer Driver | No | 59 | 0.148 | 14 | 1 | 0.071 | 0 |
PLEK | PLEK | P08567 | Pleckstrin | chr2 | GO:0140029 | Not Cancer Driver | No | 81 | 0.231 | 39 | 9 | 0.231 | 0 |
PPFIA3 | PPFIA3 | O75145 | Liprin-alpha-3 | chr19 | GO:0140029 | Not Cancer Driver | No | 140 | 0.117 | 831 | 107 | 0.129 | 0 |
PRRT2_ENST00000645336 | PRRT2 | Q7Z6L0 | Proline-rich transmembrane protein 2 | chr16 | GO:0140029 | Not Cancer Driver | No | 45 | 0.132 | 268 | 32 | 0.119 | 7 |
PSEN1 | PSEN1 | P49768 | Presenilin-1 | chr14 | GO:0140029 | Not Cancer Driver | No | 61 | 0.131 | 134 | 21 | 0.157 | 96 |
RAB10 | RAB10 | P61026 | Ras-related protein Rab-10 | chr2 | GO:0140029 | Not Cancer Driver | No | 19 | 0.095 | 28 | 2 | 0.071 | 0 |
RAB12 | RAB12 | Q6IQ22 | Ras-related protein Rab-12 | chr18 | GO:0140029 | Not Cancer Driver | No | 22 | 0.09 | 72 | 3 | 0.042 | 0 |
RAB13 | RAB13 | P51153 | Ras-related protein Rab-13 | chr1 | GO:0140029 | Not Cancer Driver | No | 19 | 0.094 | 40 | 0 | 0.0 | 0 |
RAB15 | RAB15 | P59190 | Ras-related protein Rab-15 | chr14 | GO:0140029 | Not Cancer Driver | No | 18 | 0.085 | 50 | 5 | 0.1 | 0 |
RAB3A | RAB3A | P20336 | Ras-related protein Rab-3A | chr19 | GO:0140029 | Not Cancer Driver | No | 25 | 0.114 | 43 | 4 | 0.093 | 0 |
RAB3B | RAB3B | P20337 | Ras-related protein Rab-3B | chr1 | GO:0140029 | Not Cancer Driver | No | 36 | 0.164 | 25 | 6 | 0.24 | 0 |
RAB3C | RAB3C | Q96E17 | Ras-related protein Rab-3C | chr5 | GO:0140029 | Not Cancer Driver | No | 52 | 0.229 | 54 | 10 | 0.185 | 0 |
RAB3D_ENST00000589655 | RAB3D | O95716 | Ras-related protein Rab-3D | chr19 | GO:0140029 | Not Cancer Driver | No | 37 | 0.169 | 46 | 6 | 0.13 | 0 |
RAB8A | RAB8A | P61006 | Ras-related protein Rab-8A | chr19 | GO:0140029 | Not Cancer Driver | No | 37 | 0.179 | 26 | 3 | 0.115 | 0 |
RAB8B | RAB8B | Q92930 | Ras-related protein Rab-8B | chr15 | GO:0140029 | Not Cancer Driver | No | 22 | 0.106 | 29 | 2 | 0.069 | 0 |
RABEPK | RABEPK | Q7Z6M1 | Rab9 effector protein with kelch motifs | chr9 | GO:0140029 | Not Cancer Driver | No | 54 | 0.145 | 161 | 24 | 0.149 | 0 |
SCFD2 | SCFD2 | Q8WU76 | Sec1 family domain-containing protein 2 | chr4 | GO:0140029 | Not Cancer Driver | No | 96 | 0.14 | 24 | 4 | 0.167 | 0 |
SCRIB_ENST00000320476 | SCRIB | Q14160 | Protein scribble homolog | chr8 | GO:0140029 | Not Cancer Driver | No | 196 | 0.12 | 1064 | 135 | 0.127 | 2 |
SEPT5 | SEPTIN5 | Q99719 | Septin-5 | chr22 | GO:0140029 | Not Cancer Driver | No | 50 | 0.136 | 76 | 5 | 0.066 | 0 |
SNAP23 | SNAP23 | O00161 | Synaptosomal-associated protein 23 | chr15 | GO:0140029 | Not Cancer Driver | No | 18 | 0.085 | 179 | 16 | 0.089 | 0 |
SNAP25 | SNAP25 | P60880 | Synaptosomal-associated protein 25 | chr20 | GO:0140029 | Not Cancer Driver | No | 61 | 0.296 | 176 | 49 | 0.278 | 1 |
SNAP29 | SNAP29 | O95721 | Synaptosomal-associated protein 29 | chr22 | GO:0140029 | Not Cancer Driver | No | 21 | 0.081 | 246 | 20 | 0.081 | 0 |
SNAP47_ENST00000366759 | SNAP47 | Q5SQN1 | Synaptosomal-associated protein 47 | chr1 | GO:0140029 | Not Cancer Driver | No | 51 | 0.11 | 192 | 20 | 0.104 | 0 |
SNAPIN | SNAPIN | O95295 | SNARE-associated protein Snapin | chr1 | GO:0140029 | Not Cancer Driver | No | 9 | 0.066 | 62 | 5 | 0.081 | 0 |
SNCA_ENST00000506244 | SNCA | P37840 | Alpha-synuclein | chr4 | GO:0140029 | Not Cancer Driver | No | 21 | 0.15 | 107 | 13 | 0.121 | 5 |
SNPH_ENST00000381873 | SNPH | O15079 | Syntaphilin | chr20 | GO:0140029 | Not Cancer Driver | No | 79 | 0.16 | 406 | 71 | 0.175 | 0 |
STX11 | STX11 | O75558 | Syntaxin-11 | chr6 | GO:0140029 | Not Cancer Driver | No | 71 | 0.247 | 48 | 7 | 0.146 | 0 |
STX19 | STX19 | Q8N4C7 | Syntaxin-19 | chr3 | GO:0140029 | Not Cancer Driver | No | 39 | 0.133 | 67 | 4 | 0.06 | 0 |
STX1A | STX1A | Q16623 | Syntaxin-1A | chr7 | GO:0140029 | Not Cancer Driver | No | 35 | 0.122 | 136 | 11 | 0.081 | 0 |
STX1B | STX1B | P61266 | Syntaxin-1B | chr16 | GO:0140029 | Not Cancer Driver | No | 38 | 0.132 | 155 | 20 | 0.129 | 2 |
STX2 | STX2 | P32856 | Syntaxin-2 | chr12 | GO:0140029 | Not Cancer Driver | No | 43 | 0.149 | 140 | 25 | 0.179 | 0 |
STX3 | STX3 | Q13277 | Syntaxin-3 | chr11 | GO:0140029 | Not Cancer Driver | No | 51 | 0.176 | 129 | 30 | 0.233 | 0 |
STX4 | STX4 | Q12846 | Syntaxin-4 | chr16 | GO:0140029 | Not Cancer Driver | No | 50 | 0.168 | 152 | 20 | 0.132 | 0 |
STXBP1_ENST00000373299 | STXBP1 | P61764 | Syntaxin-binding protein 1 | chr9 | GO:0140029 | Not Cancer Driver | No | 97 | 0.163 | 111 | 23 | 0.207 | 18 |
STXBP2_ENST00000221283 | STXBP2 | Q15833 | Syntaxin-binding protein 2 | chr19 | GO:0140029 | Not Cancer Driver | No | 77 | 0.13 | 80 | 13 | 0.163 | 5 |
STXBP3 | STXBP3 | O00186 | Syntaxin-binding protein 3 | chr1 | GO:0140029 | Not Cancer Driver | No | 59 | 0.1 | 64 | 9 | 0.141 | 0 |
SV2A | SV2A | Q7L0J3 | Synaptic vesicle glycoprotein 2A | chr1 | GO:0140029 | Not Cancer Driver | No | 134 | 0.181 | 150 | 31 | 0.207 | 0 |
SYK_ENST00000375746 | SYK | P43405 | Tyrosine-protein kinase SYK | chr9 | GO:0140029 | Census | Yes | 96 | 0.151 | 131 | 27 | 0.206 | 5 |
SYNJ1 | SYNJ1 | O43426 | Synaptojanin-1 | chr21 | GO:0140029 | Not Cancer Driver | No | 208 | 0.132 | 584 | 76 | 0.13 | 3 |
SYTL2_ENST00000528231 | SYTL2 | Q9HCH5 | Synaptotagmin-like protein 2 | chr11 | GO:0140029 | Not Cancer Driver | No | 137 | 0.147 | 635 | 104 | 0.164 | 0 |
UNC13A | UNC13A | Q9UPW8 | Protein unc-13 homolog A | chr19 | GO:0140029 | Not Cancer Driver | No | 300 | 0.176 | 454 | 78 | 0.172 | 0 |
UNC13B_ENST00000378495 | UNC13B | O14795 | Protein unc-13 homolog B | chr9 | GO:0140029 | Not Cancer Driver | No | 214 | 0.135 | 448 | 77 | 0.172 | 0 |
UNC13C | UNC13C | Q8NB66 | Protein unc-13 homolog C | chr15 | GO:0140029 | Not Cancer Driver | No | 681 | 0.308 | 886 | 268 | 0.302 | 0 |
VAMP3 | VAMP3 | Q15836 | Vesicle-associated membrane protein 3 | chr1 | GO:0140029 | Not Cancer Driver | No | 11 | 0.11 | 17 | 1 | 0.059 | 0 |
VPS11 | VPS11 | Q9H270 | Vacuolar protein sorting-associated protein 11 homolog | chr11 | GO:0140029 | Not Cancer Driver | No | 96 | 0.102 | 118 | 6 | 0.051 | 1 |
VPS18 | VPS18 | Q9P253 | Vacuolar protein sorting-associated protein 18 homolog | chr15 | GO:0140029 | Not Cancer Driver | No | 96 | 0.099 | 86 | 7 | 0.081 | 0 |
VTI1B | VTI1B | Q9UEU0 | Vesicle transport through interaction with t-SNAREs homolog 1B | chr14 | GO:0140029 | Not Cancer Driver | No | 25 | 0.108 | 192 | 20 | 0.104 | 0 |
YKT6 | YKT6 | O15498 | Synaptobrevin homolog YKT6 | chr7 | GO:0140029 | Not Cancer Driver | No | 19 | 0.096 | 21 | 2 | 0.095 | 0 |