Total number of protein in "GO:0048514" GO term: 90
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACVRL1 | ACVRL1 | P37023 | Serine/threonine-protein kinase receptor R3 | chr12 | GO:0048514 | Not Cancer Driver | No | 93 | 0.185 | 60 | 11 | 0.183 | 82 |
ADAMTS9 | ADAMTS9 | Q9P2N4 | A disintegrin and metalloproteinase with thrombospondin motifs 9 | chr3 | GO:0048514 | Not Cancer Driver | No | 288 | 0.149 | 235 | 38 | 0.162 | 0 |
ADGRF5_ENST00000265417 | ADGRF5 | Q8IZF2 | Adhesion G protein-coupled receptor F5 | chr6 | GO:0048514 | Not Cancer Driver | No | 255 | 0.189 | 53 | 11 | 0.208 | 0 |
ANGPTL3 | ANGPTL3 | Q9Y5C1 | Angiopoietin-related protein 3 | chr1 | GO:0048514 | Not Cancer Driver | No | 52 | 0.113 | 154 | 26 | 0.169 | 0 |
APOB | APOB | P04114 | Apolipoprotein B-100 | chr2 | GO:0048514 | Not Cancer Driver | No | 1022 | 0.224 | 315 | 72 | 0.229 | 3 |
APOE | APOE | P02649 | Apolipoprotein E | chr19 | GO:0048514 | Not Cancer Driver | No | 25 | 0.079 | 124 | 6 | 0.048 | 12 |
ARID2 | ARID2 | Q68CP9 | AT-rich interactive domain-containing protein 2 | chr12 | GO:0048514 | Census, Compendium | Yes | 272 | 0.148 | 1143 | 141 | 0.123 | 0 |
BMP4 | BMP4 | P12644 | Bone morphogenetic protein 4 | chr14 | GO:0048514 | Not Cancer Driver | No | 86 | 0.211 | 142 | 26 | 0.183 | 5 |
BMPR1A | BMPR1A | P36894 | Bone morphogenetic protein receptor type-1A | chr10 | GO:0048514 | Census, Compendium | Yes | 66 | 0.124 | 21 | 0 | 0.0 | 8 |
BMPR2 | BMPR2 | Q13873 | Bone morphogenetic protein receptor type-2 | chr2 | GO:0048514 | Compendium | Yes | 141 | 0.136 | 601 | 70 | 0.116 | 19 |
CCBE1 | CCBE1 | Q6UXH8 | Collagen and calcium-binding EGF domain-containing protein 1 | chr18 | GO:0048514 | Not Cancer Driver | No | 92 | 0.227 | 227 | 58 | 0.256 | 5 |
CCM2_ENST00000258781 | CCM2 | Q9BSQ5 | Cerebral cavernous malformations 2 protein | chr7 | GO:0048514 | Not Cancer Driver | No | 58 | 0.131 | 132 | 8 | 0.061 | 3 |
CDH2 | CDH2 | P19022 | Cadherin-2 | chr18 | GO:0048514 | Not Cancer Driver | No | 238 | 0.263 | 461 | 130 | 0.282 | 7 |
CHD7 | CHD7 | Q9P2D1 | Chromodomain-helicase-DNA-binding protein 7 | chr8 | GO:0048514 | Not Cancer Driver | No | 464 | 0.155 | 1872 | 299 | 0.16 | 50 |
CITED2_ENST00000367651 | CITED2 | Q99967 | Cbp/p300-interacting transactivator 2 | chr6 | GO:0048514 | Not Cancer Driver | No | 23 | 0.085 | 230 | 18 | 0.078 | 0 |
COL4A1 | COL4A1 | P02462 | Collagen alpha-1(IV) chain | chr13 | GO:0048514 | Not Cancer Driver | No | 349 | 0.209 | 1457 | 310 | 0.213 | 32 |
COMP | COMP | P49747 | Cartilage oligomeric matrix protein | chr19 | GO:0048514 | Not Cancer Driver | No | 97 | 0.128 | 306 | 52 | 0.17 | 61 |
CYP1B1 | CYP1B1 | Q16678 | Cytochrome P450 1B1 | chr2 | GO:0048514 | Not Cancer Driver | No | 61 | 0.112 | 31 | 3 | 0.097 | 40 |
DLL4 | DLL4 | Q9NR61 | Delta-like protein 4 | chr15 | GO:0048514 | Not Cancer Driver | No | 75 | 0.109 | 73 | 15 | 0.205 | 7 |
EDN1 | EDN1 | P05305 | Endothelin-1 | chr6 | GO:0048514 | Not Cancer Driver | No | 37 | 0.175 | 97 | 20 | 0.206 | 3 |
EDNRA | EDNRA | P25101 | Endothelin-1 receptor | chr4 | GO:0048514 | Not Cancer Driver | No | 62 | 0.145 | 21 | 6 | 0.286 | 2 |
EFNB2_ENST00000245323 | EFNB2 | P52799 | Ephrin-B2 | chr13 | GO:0048514 | Not Cancer Driver | No | 42 | 0.126 | 97 | 15 | 0.155 | 0 |
ENG | ENG | P17813 | Endoglin | chr9 | GO:0048514 | Not Cancer Driver | No | 60 | 0.091 | 114 | 15 | 0.132 | 32 |
ETV2_ENST00000403402 | ETV2 | O00321 | ETS translocation variant 2 | chr19 | GO:0048514 | Not Cancer Driver | No | 23 | 0.067 | 227 | 15 | 0.066 | 0 |
EYA1_ENST00000647540 | EYA1 | Q99502 | Eyes absent homolog 1 | chr8 | GO:0048514 | Not Cancer Driver | No | 168 | 0.284 | 341 | 99 | 0.29 | 15 |
FGF8_ENST00000344255 | FGF8 | P55075 | Fibroblast growth factor 8 | chr10 | GO:0048514 | Not Cancer Driver | No | 30 | 0.129 | 79 | 9 | 0.114 | 6 |
FKBP10 | FKBP10 | Q96AY3 | Peptidyl-prolyl cis-trans isomerase FKBP10 | chr17 | GO:0048514 | Not Cancer Driver | No | 60 | 0.103 | 134 | 8 | 0.06 | 3 |
FLT1 | FLT1 | P17948 | Vascular endothelial growth factor receptor 1 | chr13 | GO:0048514 | Not Cancer Driver | No | 299 | 0.223 | 103 | 20 | 0.194 | 0 |
FLT4 | FLT4 | P35916 | Vascular endothelial growth factor receptor 3 | chr5 | GO:0048514 | Census, Compendium | Yes | 253 | 0.186 | 259 | 41 | 0.158 | 13 |
FOLR1_ENST00000393681 | FOLR1 | P15328 | Folate receptor alpha | chr11 | GO:0048514 | Not Cancer Driver | No | 41 | 0.16 | 13 | 3 | 0.231 | 0 |
FOXC1_ENST00000645831 | FOXC1 | Q12948 | Forkhead box protein C1 | chr6 | GO:0048514 | Not Cancer Driver | No | 33 | 0.06 | 411 | 24 | 0.058 | 32 |
FOXC2 | FOXC2 | Q99958 | Forkhead box protein C2 | chr16 | GO:0048514 | Not Cancer Driver | No | 63 | 0.126 | 369 | 33 | 0.089 | 1 |
FOXF1 | FOXF1 | Q12946 | Forkhead box protein F1 | chr16 | GO:0048514 | Not Cancer Driver | No | 56 | 0.148 | 194 | 20 | 0.103 | 20 |
FOXH1 | FOXH1 | O75593 | Forkhead box protein H1 | chr8 | GO:0048514 | Not Cancer Driver | No | 47 | 0.129 | 215 | 25 | 0.116 | 0 |
FOXN1 | FOXN1 | O15353 | Forkhead box protein N1 | chr17 | GO:0048514 | Not Cancer Driver | No | 90 | 0.139 | 483 | 65 | 0.135 | 2 |
FZD4 | FZD4 | Q9ULV1 | Frizzled-4 | chr11 | GO:0048514 | Not Cancer Driver | No | 57 | 0.106 | 33 | 5 | 0.152 | 19 |
GJA1 | GJA1 | P17302 | Gap junction alpha-1 protein | chr6 | GO:0048514 | Not Cancer Driver | No | 86 | 0.225 | 110 | 26 | 0.236 | 50 |
GJA5 | GJA5 | P36382 | Gap junction alpha-5 protein | chr1 | GO:0048514 | Not Cancer Driver | No | 74 | 0.207 | 92 | 21 | 0.228 | 5 |
HAND2 | HAND2 | P61296 | Heart- and neural crest derivatives-expressed protein 2 | chr4 | GO:0048514 | Not Cancer Driver | No | 47 | 0.217 | 124 | 29 | 0.234 | 0 |
HEG1 | HEG1 | Q9ULI3 | Protein HEG homolog 1 | chr3 | GO:0048514 | Not Cancer Driver | No | 173 | 0.125 | 974 | 135 | 0.139 | 0 |
HES1 | HES1 | Q14469 | Transcription factor HES-1 | chr3 | GO:0048514 | Not Cancer Driver | No | 37 | 0.132 | 226 | 32 | 0.142 | 0 |
HEY1_ENST00000354724 | HEY1 | Q9Y5J3 | Hairy/enhancer-of-split related with YRPW motif protein 1 | chr8 | GO:0048514 | Census | Yes | 33 | 0.109 | 172 | 15 | 0.087 | 0 |
HEY2 | HEY2 | Q9UBP5 | Hairy/enhancer-of-split related with YRPW motif protein 2 | chr6 | GO:0048514 | Not Cancer Driver | No | 64 | 0.19 | 179 | 26 | 0.145 | 0 |
HOXA13 | HOXA13 | P31271 | Homeobox protein Hox-A13 | chr7 | GO:0048514 | Census | Yes | 37 | 0.095 | 171 | 22 | 0.129 | 4 |
HOXA1_ENST00000643460 | HOXA1 | P49639 | Homeobox protein Hox-A1 | chr7 | GO:0048514 | Not Cancer Driver | No | 90 | 0.269 | 262 | 68 | 0.26 | 0 |
HPGD | HPGD | P15428 | 15-hydroxyprostaglandin dehydrogenase [NAD(+)] | chr4 | GO:0048514 | Not Cancer Driver | No | 32 | 0.12 | 4 | 1 | 0.25 | 2 |
ID1 | ID1 | P41134 | DNA-binding protein inhibitor ID-1 | chr20 | GO:0048514 | Not Cancer Driver | No | 20 | 0.129 | 17 | 6 | 0.353 | 0 |
JAG1 | JAG1 | P78504 | Protein jagged-1 | chr20 | GO:0048514 | Not Cancer Driver | No | 182 | 0.149 | 172 | 20 | 0.116 | 52 |
LAMA1 | LAMA1 | P25391 | Laminin subunit alpha-1 | chr18 | GO:0048514 | Not Cancer Driver | No | 600 | 0.195 | 329 | 71 | 0.216 | 0 |
LDLR | LDLR | P01130 | Low-density lipoprotein receptor | chr19 | GO:0048514 | Not Cancer Driver | No | 119 | 0.138 | 63 | 3 | 0.048 | 104 |
LOX | LOX | P28300 | Protein-lysine 6-oxidase | chr5 | GO:0048514 | Compendium | Yes | 44 | 0.106 | 172 | 11 | 0.064 | 4 |
LRP1 | LRP1 | Q07954 | Prolow-density lipoprotein receptor-related protein 1 | chr12 | GO:0048514 | Not Cancer Driver | No | 664 | 0.146 | 317 | 52 | 0.164 | 1 |
LRP2 | LRP2 | P98164 | Low-density lipoprotein receptor-related protein 2 | chr2 | GO:0048514 | Not Cancer Driver | No | 998 | 0.214 | 209 | 40 | 0.191 | 1 |
LRP5 | LRP5 | O75197 | Low-density lipoprotein receptor-related protein 5 | chr11 | GO:0048514 | Not Cancer Driver | No | 253 | 0.157 | 188 | 28 | 0.149 | 55 |
LRP5L_ENST00000402785 | LRP5L | A4QPB2 | Low-density lipoprotein receptor-related protein 5-like protein | chr22 | GO:0048514 | Not Cancer Driver | No | 38 | 0.151 | 39 | 5 | 0.128 | 0 |
MYOCD_ENST00000343344 | MYOCD | Q8IZQ8 | Myocardin | chr17 | GO:0048514 | Not Cancer Driver | No | 284 | 0.303 | 853 | 263 | 0.308 | 0 |
NF1 | NF1 | P21359 | Neurofibromin | chr17 | GO:0048514 | Census, Compendium | Yes | 375 | 0.132 | 406 | 47 | 0.116 | 85 |
NOG | NOG | Q13253 | Noggin | chr17 | GO:0048514 | Not Cancer Driver | No | 22 | 0.095 | 86 | 9 | 0.105 | 20 |
NOTCH1 | NOTCH1 | P46531 | Neurogenic locus notch homolog protein 1 | chr9 | GO:0048514 | Census, Compendium | Yes | 363 | 0.142 | 686 | 87 | 0.127 | 3 |
NOTCH3 | NOTCH3 | Q9UM47 | Neurogenic locus notch homolog protein 3 | chr19 | GO:0048514 | Not Cancer Driver | No | 306 | 0.132 | 557 | 81 | 0.145 | 110 |
NPRL3_ENST00000611875 | NPRL3 | Q12980 | GATOR complex protein NPRL3 | chr16 | GO:0048514 | Not Cancer Driver | No | 45 | 0.079 | 158 | 22 | 0.139 | 0 |
NR2F2 | NR2F2 | P24468 | COUP transcription factor 2 | chr15 | GO:0048514 | Not Cancer Driver | No | 66 | 0.159 | 101 | 1 | 0.01 | 5 |
NRP1 | NRP1 | O14786 | Neuropilin-1 | chr10 | GO:0048514 | Compendium | Yes | 146 | 0.158 | 211 | 31 | 0.147 | 0 |
PDGFRB | PDGFRB | P09619 | Platelet-derived growth factor receptor beta | chr5 | GO:0048514 | Census, Compendium | Yes | 164 | 0.148 | 231 | 44 | 0.19 | 7 |
PKD2 | PKD2 | Q13563 | Polycystin-2 | chr4 | GO:0048514 | Not Cancer Driver | No | 113 | 0.117 | 375 | 35 | 0.093 | 10 |
PRDM1 | PRDM1 | O75626 | PR domain zinc finger protein 1 | chr6 | GO:0048514 | Census, Compendium | Yes | 145 | 0.176 | 337 | 66 | 0.196 | 0 |
PROX1 | PROX1 | Q92786 | Prospero homeobox protein 1 | chr1 | GO:0048514 | Not Cancer Driver | No | 182 | 0.247 | 537 | 141 | 0.263 | 0 |
PRRX1 | PRRX1 | P54821 | Paired mesoderm homeobox protein 1 | chr1 | GO:0048514 | Census, Compendium | Yes | 69 | 0.282 | 205 | 49 | 0.239 | 1 |
RASA1 | RASA1 | P20936 | Ras GTPase-activating protein 1 | chr5 | GO:0048514 | Compendium | Yes | 154 | 0.147 | 181 | 25 | 0.138 | 3 |
RBPJ_ENST00000361572 | RBPJ | Q06330 | Recombining binding protein suppressor of hairless | chr4 | GO:0048514 | Not Cancer Driver | No | 49 | 0.098 | 151 | 19 | 0.126 | 2 |
SEC24B_ENST00000265175 | SEC24B | O95487 | Protein transport protein Sec24B | chr4 | GO:0048514 | Not Cancer Driver | No | 135 | 0.106 | 526 | 55 | 0.105 | 0 |
SERPINF2_ENST00000382061 | SERPINF2 | P08697 | Alpha-2-antiplasmin | chr17 | GO:0048514 | Not Cancer Driver | No | 62 | 0.126 | 112 | 21 | 0.188 | 1 |
SETD2 | SETD2 | Q9BYW2 | Histone-lysine N-methyltransferase SETD2 | chr3 | GO:0048514 | Census, Compendium | Yes | 321 | 0.125 | 1945 | 209 | 0.107 | 2 |
SGCD_ENST00000435422 | SGCD | Q92629 | Delta-sarcoglycan | chr5 | GO:0048514 | Not Cancer Driver | No | 67 | 0.232 | 74 | 20 | 0.27 | 2 |
SIX1_ENST00000645694 | SIX1 | Q15475 | Homeobox protein SIX1 | chr14 | GO:0048514 | Census, Compendium | Yes | 49 | 0.173 | 144 | 25 | 0.174 | 8 |
SLC1A1 | SLC1A1 | P43005 | Excitatory amino acid transporter 3 | chr9 | GO:0048514 | Not Cancer Driver | No | 69 | 0.132 | 17 | 4 | 0.235 | 1 |
SMAD7 | SMAD7 | O15105 | Mothers against decapentaplegic homolog 7 | chr18 | GO:0048514 | Not Cancer Driver | No | 40 | 0.094 | 139 | 0 | 0.0 | 0 |
SOS1_ENST00000402219 | SOS1 | Q07889 | Son of sevenless homolog 1 | chr2 | GO:0048514 | Compendium | Yes | 197 | 0.148 | 458 | 62 | 0.135 | 38 |
SRF | SRF | P11831 | Serum response factor | chr6 | GO:0048514 | Not Cancer Driver | No | 44 | 0.087 | 443 | 42 | 0.095 | 0 |
STRA6_ENST00000323940 | STRA6 | Q9BX79 | Receptor for retinol uptake STRA6 | chr15 | GO:0048514 | Not Cancer Driver | No | 77 | 0.115 | 84 | 14 | 0.167 | 6 |
SYK_ENST00000375746 | SYK | P43405 | Tyrosine-protein kinase SYK | chr9 | GO:0048514 | Census | Yes | 96 | 0.151 | 131 | 27 | 0.206 | 5 |
TBX1_ENST00000329705 | TBX1 | O43435 | T-box transcription factor TBX1 | chr22 | GO:0048514 | Not Cancer Driver | No | 35 | 0.088 | 197 | 12 | 0.061 | 4 |
TBX2 | TBX2 | Q13207 | T-box transcription factor TBX2 | chr17 | GO:0048514 | Not Cancer Driver | No | 74 | 0.104 | 401 | 36 | 0.09 | 1 |
TBX20 | TBX20 | Q9UMR3 | T-box transcription factor TBX20 | chr7 | GO:0048514 | Not Cancer Driver | No | 117 | 0.262 | 201 | 54 | 0.269 | 2 |
TFAP2B | TFAP2B | Q92481 | Transcription factor AP-2-beta | chr6 | GO:0048514 | Not Cancer Driver | No | 114 | 0.248 | 306 | 75 | 0.245 | 6 |
TGFB2_ENST00000366930 | TGFB2 | P61812 | Transforming growth factor beta-2 proprotein | chr1 | GO:0048514 | Not Cancer Driver | No | 63 | 0.152 | 47 | 8 | 0.17 | 3 |
TGFBR1_ENST00000374994 | TGFBR1 | P36897 | TGF-beta receptor type-1 | chr9 | GO:0048514 | Not Cancer Driver | No | 86 | 0.171 | 23 | 3 | 0.13 | 15 |
VEGFA_ENST00000523873 | VEGFA | P15692 | Vascular endothelial growth factor A | chr6 | GO:0048514 | Not Cancer Driver | No | 27 | 0.116 | 41 | 7 | 0.171 | 0 |
WNT11 | WNT11 | O96014 | Protein Wnt-11 | chr11 | GO:0048514 | Not Cancer Driver | No | 55 | 0.155 | 59 | 4 | 0.068 | 0 |
ZMIZ1 | ZMIZ1 | Q9ULJ6 | Zinc finger MIZ domain-containing protein 1 | chr10 | GO:0048514 | Not Cancer Driver | No | 148 | 0.139 | 762 | 111 | 0.146 | 5 |