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Total number of protein in "GO:0035295" GO term:  140

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
ACAT1 ACAT1 P24752 Acetyl-CoA acetyltransferase, mitochondrial chr11 GO:0035295 Not Cancer Driver No 45 0.105 32 1 0.031 10
ADA ADA P00813 Adenosine deaminase chr20 GO:0035295 Not Cancer Driver No 50 0.138 44 9 0.205 27
ADGRG1 ADGRG1 Q9Y653 Adhesion G-protein coupled receptor G1 chr16 GO:0035295 Not Cancer Driver No 64 0.092 67 4 0.06 9
AHI1_ENST00000457866 AHI1 Q8N157 Jouberin chr6 GO:0035295 Not Cancer Driver No 120 0.1 500 56 0.112 6
AKR1B1 AKR1B1 P15121 Aldo-keto reductase family 1 member B1 chr7 GO:0035295 Not Cancer Driver No 52 0.165 19 1 0.053 0
ALDH1A2 ALDH1A2 O94788 Retinal dehydrogenase 2 chr15 GO:0035295 Not Cancer Driver No 100 0.193 56 13 0.232 0
ALX4 ALX4 Q9H161 Homeobox protein aristaless-like 4 chr11 GO:0035295 Not Cancer Driver No 98 0.238 320 77 0.241 4
AQP11 AQP11 Q8NBQ7 Aquaporin-11 chr11 GO:0035295 Not Cancer Driver No 23 0.085 0 0 0.0 0
AQP2 AQP2 P41181 Aquaporin-2 chr12 GO:0035295 Not Cancer Driver No 52 0.192 31 3 0.097 28
AR AR P10275 Androgen receptor chrX GO:0035295 Census, Compendium Yes 196 0.213 443 88 0.199 169
ARG2 ARG2 P78540 Arginase-2, mitochondrial chr14 GO:0035295 Not Cancer Driver No 25 0.071 58 3 0.052 0
ASS1_ENST00000352480 ASS1 P00966 Argininosuccinate synthase chr9 GO:0035295 Not Cancer Driver No 65 0.158 63 8 0.127 86
ATRX ATRX P46100 Transcriptional regulator ATRX chrX GO:0035295 Census, Compendium Yes 487 0.195 1672 301 0.18 33
BMP4 BMP4 P12644 Bone morphogenetic protein 4 chr14 GO:0035295 Not Cancer Driver No 86 0.211 142 26 0.183 5
BMP7 BMP7 P18075 Bone morphogenetic protein 7 chr20 GO:0035295 Not Cancer Driver No 91 0.211 69 18 0.261 0
BMPER BMPER Q8N8U9 BMP-binding endothelial regulator protein chr7 GO:0035295 Not Cancer Driver No 196 0.286 0 0 0.0 1
BRIP1 BRIP1 Q9BX63 Fanconi anemia group J protein chr17 GO:0035295 Census Yes 174 0.139 397 59 0.149 6
CALB1 CALB1 P05937 Calbindin chr8 GO:0035295 Not Cancer Driver No 46 0.176 0 0 0.0 0
CAT CAT P04040 Catalase chr11 GO:0035295 Not Cancer Driver No 70 0.133 176 18 0.102 0
CCKBR CCKBR P32239 Gastrin/cholecystokinin type B receptor chr11 GO:0035295 Not Cancer Driver No 122 0.273 61 22 0.361 0
CER1 CER1 O95813 Cerberus chr9 GO:0035295 Not Cancer Driver No 70 0.262 119 27 0.227 0
CHD8_ENST00000643469 CHD8 Q9HCK8 Chromodomain-helicase-DNA-binding protein 8 chr14 GO:0035295 Not Cancer Driver No 328 0.127 1411 148 0.105 0
CLDN18 CLDN18 P56856 Claudin-18 chr3 GO:0035295 Not Cancer Driver No 44 0.169 21 5 0.238 0
CLMP CLMP Q9H6B4 CXADR-like membrane protein chr11 GO:0035295 Not Cancer Driver No 53 0.142 144 26 0.181 1
COBL_ENST00000265136 COBL O75128 Protein cordon-bleu chr7 GO:0035295 Not Cancer Driver No 233 0.185 1149 216 0.188 0
COL2A1 COL2A1 P02458 Collagen alpha-1(II) chain chr12 GO:0035295 Census Yes 258 0.174 1215 207 0.17 64
COL3A1 COL3A1 P02461 Collagen alpha-1(III) chain chr2 GO:0035295 Census Yes 402 0.274 1182 337 0.285 103
CPS1_ENST00000233072 CPS1 P31327 Carbamoyl-phosphate synthase [ammonia], mitochondrial chr2 GO:0035295 Not Cancer Driver No 368 0.245 73 22 0.301 140
CRLF1 CRLF1 O75462 Cytokine receptor-like factor 1 chr19 GO:0035295 Not Cancer Driver No 51 0.121 101 7 0.069 14
CTNNB1_ENST00000643977 CTNNB1 P35222 Catenin beta-1 chr3 GO:0035295 Census, Compendium Yes 415 0.531 288 301 1.045 14
CXCL8 CXCL8 P10145 Interleukin-8 chr4 GO:0035295 Not Cancer Driver No 17 0.172 0 0 0.0 0
CYP1A1 CYP1A1 P04798 Cytochrome P450 1A1 chr15 GO:0035295 Not Cancer Driver No 81 0.158 17 2 0.118 0
DACT2 DACT2 Q5SW24 Dapper homolog 2 chr6 GO:0035295 Not Cancer Driver No 35 0.045 655 30 0.046 0
DCHS1 DCHS1 Q96JQ0 Protocadherin-16 chr11 GO:0035295 Not Cancer Driver No 444 0.135 2197 317 0.144 3
DLG5 DLG5 Q8TDM6 Disks large homolog 5 chr10 GO:0035295 Not Cancer Driver No 230 0.12 1119 135 0.121 0
DLL1 DLL1 O00548 Delta-like protein 1 chr6 GO:0035295 Not Cancer Driver No 115 0.159 145 24 0.166 1
EPCAM EPCAM P16422 Epithelial cell adhesion molecule chr2 GO:0035295 Not Cancer Driver No 40 0.127 25 2 0.08 1
FGF9 FGF9 P31371 Fibroblast growth factor 9 chr13 GO:0035295 Not Cancer Driver No 41 0.197 43 10 0.233 1
FGFR2_ENST00000358487 FGFR2 P21802 Fibroblast growth factor receptor 2 chr10 GO:0035295 Census, Compendium Yes 238 0.29 228 44 0.193 72
FOXC1_ENST00000645831 FOXC1 Q12948 Forkhead box protein C1 chr6 GO:0035295 Not Cancer Driver No 33 0.06 411 24 0.058 32
FOXC2 FOXC2 Q99958 Forkhead box protein C2 chr16 GO:0035295 Not Cancer Driver No 63 0.126 369 33 0.089 1
FOXF1 FOXF1 Q12946 Forkhead box protein F1 chr16 GO:0035295 Not Cancer Driver No 56 0.148 194 20 0.103 20
FOXF2 FOXF2 Q12947 Forkhead box protein F2 chr6 GO:0035295 Not Cancer Driver No 44 0.099 277 10 0.036 0
FOXJ1 FOXJ1 Q92949 Forkhead box protein J1 chr17 GO:0035295 Not Cancer Driver No 25 0.059 279 18 0.065 0
GATA2_ENST00000487848 GATA2 P23769 Endothelial transcription factor GATA-2 chr3 GO:0035295 Census, Compendium Yes 72 0.15 370 49 0.132 6
GATA3_ENST00000346208 GATA3 P23771 Trans-acting T-cell-specific transcription factor GATA-3 chr10 GO:0035295 Census, Compendium Yes 111 0.251 364 87 0.239 2
GDF11 GDF11 O95390 Growth/differentiation factor 11 chr12 GO:0035295 Not Cancer Driver No 40 0.098 109 7 0.064 1
GJB1_ENST00000647424 GJB1 P08034 Gap junction beta-1 protein chrX GO:0035295 Not Cancer Driver No 34 0.12 23 7 0.304 189
GJB2_ENST00000382848 GJB2 P29033 Gap junction beta-2 protein chr13 GO:0035295 Not Cancer Driver No 34 0.15 0 0 0.0 46
GJB5 GJB5 O95377 Gap junction beta-5 protein chr1 GO:0035295 Not Cancer Driver No 38 0.139 8 5 0.625 0
GLI2_ENST00000361492 GLI2 P10070 Zinc finger protein GLI2 chr2 GO:0035295 Not Cancer Driver No 287 0.181 1403 244 0.174 2
GLI3 GLI3 P10071 Transcriptional activator GLI3 chr7 GO:0035295 Not Cancer Driver No 385 0.244 1352 327 0.242 7
GREB1L GREB1L Q9C091 GREB1-like protein chr18 GO:0035295 Not Cancer Driver No 87 0.045 480 22 0.046 25
HECA HECA Q9UBI9 Headcase protein homolog chr6 GO:0035295 Not Cancer Driver No 76 0.14 177 24 0.136 0
HES1 HES1 Q14469 Transcription factor HES-1 chr3 GO:0035295 Not Cancer Driver No 37 0.132 226 32 0.142 0
HEYL HEYL Q9NQ87 Hairy/enhancer-of-split related with YRPW motif-like protein chr1 GO:0035295 Not Cancer Driver No 44 0.134 198 19 0.096 0
HMGCS2 HMGCS2 P54868 Hydroxymethylglutaryl-CoA synthase, mitochondrial chr1 GO:0035295 Not Cancer Driver No 92 0.181 29 4 0.138 19
HOXA5 HOXA5 P20719 Homeobox protein Hox-A5 chr7 GO:0035295 Not Cancer Driver No 43 0.159 209 37 0.177 0
IFT172 IFT172 Q9UG01 Intraflagellar transport protein 172 homolog chr2 GO:0035295 Not Cancer Driver No 219 0.125 96 10 0.104 8
ING2 ING2 Q9H160 Inhibitor of growth protein 2 chr4 GO:0035295 Not Cancer Driver No 33 0.118 169 26 0.154 0
INHBB INHBB P09529 Inhibin beta B chain chr2 GO:0035295 Not Cancer Driver No 61 0.15 98 5 0.051 0
ITGB3 ITGB3 P05106 Integrin beta-3 chr17 GO:0035295 Not Cancer Driver No 124 0.157 66 5 0.076 30
ITGB6_ENST00000409872 ITGB6 P18564 Integrin beta-6 chr2 GO:0035295 Not Cancer Driver No 120 0.152 26 4 0.154 3
JAG1 JAG1 P78504 Protein jagged-1 chr20 GO:0035295 Not Cancer Driver No 182 0.149 172 20 0.116 52
KIF18A KIF18A Q8NI77 Kinesin-like protein KIF18A chr11 GO:0035295 Not Cancer Driver No 114 0.127 405 60 0.148 0
KIT KIT P10721 Mast/stem cell growth factor receptor Kit chr4 GO:0035295 Census, Compendium Yes 226 0.232 83 33 0.398 21
LGR4 LGR4 Q9BXB1 Leucine-rich repeat-containing G-protein coupled receptor 4 chr11 GO:0035295 Not Cancer Driver No 108 0.114 16 3 0.188 0
MIXL1_ENST00000366810 MIXL1 Q9H2W2 Homeobox protein MIXL1 chr1 GO:0035295 Not Cancer Driver No 18 0.078 157 10 0.064 0
MKS1 MKS1 Q9NXB0 Meckel syndrome type 1 protein chr17 GO:0035295 Not Cancer Driver No 82 0.147 152 23 0.151 2
MMP12 MMP12 P39900 Macrophage metalloelastase chr11 GO:0035295 Not Cancer Driver No 100 0.213 29 5 0.172 0
MYOCD_ENST00000343344 MYOCD Q8IZQ8 Myocardin chr17 GO:0035295 Not Cancer Driver No 284 0.303 853 263 0.308 0
NIPBL NIPBL Q6KC79 Nipped-B-like protein chr5 GO:0035295 Compendium Yes 353 0.126 1528 184 0.12 37
NKX2-2 NKX2-2 O95096 Homeobox protein Nkx-2.2 chr20 GO:0035295 Not Cancer Driver No 84 0.308 206 65 0.316 0
NKX2-6 NKX2-6 A6NCS4 Homeobox protein Nkx-2.6 chr8 GO:0035295 Not Cancer Driver No 10 0.033 243 7 0.029 3
NOTCH1 NOTCH1 P46531 Neurogenic locus notch homolog protein 1 chr9 GO:0035295 Census, Compendium Yes 363 0.142 686 87 0.127 3
NOTCH2 NOTCH2 Q04721 Neurogenic locus notch homolog protein 2 chr1 GO:0035295 Census, Compendium Yes 282 0.114 630 77 0.122 1
NPNT_ENST00000379987 NPNT Q6UXI9 Nephronectin chr4 GO:0035295 Not Cancer Driver No 90 0.159 218 33 0.151 0
OSR1 OSR1 Q8TAX0 Protein odd-skipped-related 1 chr2 GO:0035295 Not Cancer Driver No 57 0.214 67 17 0.254 0
OTC OTC P00480 Ornithine transcarbamylase, mitochondrial chrX GO:0035295 Not Cancer Driver No 89 0.251 24 4 0.167 111
OXTR OXTR P30559 Oxytocin receptor chr3 GO:0035295 Not Cancer Driver No 46 0.118 18 0 0.0 0
PAX2_ENST00000428433 PAX2 Q02962 Paired box protein Pax-2 chr10 GO:0035295 Not Cancer Driver No 62 0.149 296 48 0.162 23
PAX8 PAX8 Q06710 Paired box protein Pax-8 chr2 GO:0035295 Census Yes 84 0.187 291 55 0.189 4
PCSK5 PCSK5 Q92824 Proprotein convertase subtilisin/kexin type 5 chr9 GO:0035295 Not Cancer Driver No 319 0.172 168 25 0.149 0
PDGFC PDGFC Q9NRA1 Platelet-derived growth factor C chr4 GO:0035295 Not Cancer Driver No 86 0.249 53 12 0.226 0
PDX1 PDX1 P52945 Pancreas/duodenum homeobox protein 1 chr13 GO:0035295 Not Cancer Driver No 32 0.113 238 23 0.097 0
PKD1 PKD1 P98161 Polycystin-1 chr16 GO:0035295 Not Cancer Driver No 393 0.091 690 66 0.096 92
PKD2 PKD2 Q13563 Polycystin-2 chr4 GO:0035295 Not Cancer Driver No 113 0.117 375 35 0.093 10
PKDCC PKDCC Q504Y2 Extracellular tyrosine-protein kinase PKDCC chr2 GO:0035295 Not Cancer Driver No 36 0.073 124 0 0.0 0
POU3F3 POU3F3 P20264 POU domain, class 3, transcription factor 3 chr2 GO:0035295 Not Cancer Driver No 43 0.086 402 30 0.075 4
PTCH1 PTCH1 Q13635 Protein patched homolog 1 chr9 GO:0035295 Census, Compendium Yes 243 0.168 382 67 0.175 18
PTPN6_ENST00000318974 PTPN6 P29350 Tyrosine-protein phosphatase non-receptor type 6 chr12 GO:0035295 Census, Compendium Yes 73 0.123 192 25 0.13 0
RARA RARA P10276 Retinoic acid receptor alpha chr17 GO:0035295 Census, Compendium Yes 70 0.152 167 14 0.084 0
RARRES2 RARRES2 Q99969 Retinoic acid receptor responder protein 2 chr7 GO:0035295 Not Cancer Driver No 16 0.098 14 2 0.143 0
RB1 RB1 P06400 Retinoblastoma-associated protein chr13 GO:0035295 Census, Compendium Yes 140 0.151 282 32 0.113 22
REC8_ENST00000611366 REC8 O95072 Meiotic recombination protein REC8 homolog chr14 GO:0035295 Not Cancer Driver No 60 0.11 244 26 0.107 0
RET RET P07949 Proto-oncogene tyrosine-protein kinase receptor Ret chr10 GO:0035295 Census, Compendium Yes 208 0.187 105 12 0.114 139
ROBO2_ENST00000461745 ROBO2 Q9HCK4 Roundabout homolog 2 chr3 GO:0035295 Census Yes 407 0.295 874 259 0.296 2
SALL1 SALL1 Q9NSC2 Sal-like protein 1 chr16 GO:0035295 Not Cancer Driver No 454 0.343 949 334 0.352 0
SCT SCT P09683 Secretin chr11 GO:0035295 Not Cancer Driver No 4 0.033 71 3 0.042 0
SDC1_ENST00000254351 SDC1 P18827 Syndecan-1 chr2 GO:0035295 Not Cancer Driver No 31 0.1 259 30 0.116 0
SDC4 SDC4 P31431 Syndecan-4 chr20 GO:0035295 Census, Compendium Yes 34 0.172 110 25 0.227 0
SERPINE2_ENST00000258405 SERPINE2 P07093 Glia-derived nexin chr2 GO:0035295 Not Cancer Driver No 62 0.156 0 0 0.0 0
SFRP1 SFRP1 Q8N474 Secreted frizzled-related protein 1 chr8 GO:0035295 Not Cancer Driver No 40 0.127 39 7 0.179 0
SHH SHH Q15465 Sonic hedgehog protein chr7 GO:0035295 Not Cancer Driver No 56 0.121 139 14 0.101 81
SIM1_ENST00000262901 SIM1 P81133 Single-minded homolog 1 chr6 GO:0035295 Not Cancer Driver No 223 0.291 376 120 0.319 0
SIX1_ENST00000645694 SIX1 Q15475 Homeobox protein SIX1 chr14 GO:0035295 Census, Compendium Yes 49 0.173 144 25 0.174 8
SLC4A2 SLC4A2 P04920 Anion exchange protein 2 chr7 GO:0035295 Not Cancer Driver No 150 0.121 509 62 0.122 0
SLIT2 SLIT2 O94813 Slit homolog 2 protein chr4 GO:0035295 Not Cancer Driver No 428 0.28 31 13 0.419 0
SMAD1 SMAD1 Q15797 Mothers against decapentaplegic homolog 1 chr4 GO:0035295 Not Cancer Driver No 54 0.116 161 22 0.137 0
SMAD2_ENST00000402690 SMAD2 Q15796 Mothers against decapentaplegic homolog 2 chr18 GO:0035295 Census, Compendium Yes 79 0.169 137 12 0.088 0
SMAD3 SMAD3 P84022 Mothers against decapentaplegic homolog 3 chr15 GO:0035295 Census, Compendium Yes 97 0.228 111 19 0.171 5
SMAD4_ENST00000398417 SMAD4 Q13485 Mothers against decapentaplegic homolog 4 chr18 GO:0035295 Census, Compendium Yes 198 0.359 195 17 0.087 8
SMAD5_ENST00000509297 SMAD5 Q99717 Mothers against decapentaplegic homolog 5 chr5 GO:0035295 Not Cancer Driver No 44 0.095 172 11 0.064 0
SMAD6 SMAD6 O43541 Mothers against decapentaplegic homolog 6 chr15 GO:0035295 Not Cancer Driver No 38 0.077 248 7 0.028 7
SMAD7 SMAD7 O15105 Mothers against decapentaplegic homolog 7 chr18 GO:0035295 Not Cancer Driver No 40 0.094 139 0 0.0 0
SMO SMO Q99835 Smoothened homolog chr7 GO:0035295 Census, Compendium Yes 112 0.142 241 27 0.112 1
SOX17 SOX17 Q9H6I2 Transcription factor SOX-17 chr8 GO:0035295 Compendium Yes 81 0.196 378 59 0.156 2
SOX9 SOX9 P48436 Transcription factor SOX-9 chr17 GO:0035295 Compendium Yes 86 0.169 495 82 0.166 18
SPATA2_ENST00000289431 SPATA2 Q9UM82 Spermatogenesis-associated protein 2 chr20 GO:0035295 Not Cancer Driver No 70 0.135 235 39 0.166 0
SPRY1 SPRY1 O43609 Protein sprouty homolog 1 chr4 GO:0035295 Not Cancer Driver No 46 0.144 168 26 0.155 0
STAT1 STAT1 P42224 Signal transducer and activator of transcription 1-alpha/beta chr2 GO:0035295 Not Cancer Driver No 131 0.175 144 25 0.174 26
STRA6_ENST00000323940 STRA6 Q9BX79 Receptor for retinol uptake STRA6 chr15 GO:0035295 Not Cancer Driver No 77 0.115 84 14 0.167 6
TBC1D20 TBC1D20 Q96BZ9 TBC1 domain family member 20 chr20 GO:0035295 Not Cancer Driver No 52 0.129 99 10 0.101 0
TCF21 TCF21 O43680 Transcription factor 21 chr6 GO:0035295 Not Cancer Driver No 55 0.307 120 40 0.333 0
TFAP2B TFAP2B Q92481 Transcription factor AP-2-beta chr6 GO:0035295 Not Cancer Driver No 114 0.248 306 75 0.245 6
TGFB2_ENST00000366930 TGFB2 P61812 Transforming growth factor beta-2 proprotein chr1 GO:0035295 Not Cancer Driver No 63 0.152 47 8 0.17 3
TGFB3 TGFB3 P10600 Transforming growth factor beta-3 proprotein chr14 GO:0035295 Not Cancer Driver No 45 0.109 96 14 0.146 1
TGFBR2_ENST00000295754 TGFBR2 P37173 TGF-beta receptor type-2 chr3 GO:0035295 Census, Compendium Yes 106 0.187 60 16 0.267 25
TNF TNF P01375 Tumor necrosis factor chr6 GO:0035295 Not Cancer Driver No 24 0.103 45 3 0.067 0
TRAF4 TRAF4 Q9BUZ4 TNF receptor-associated factor 4 chr17 GO:0035295 Not Cancer Driver No 42 0.089 27 1 0.037 0
TTC8_ENST00000338104 TTC8 Q8TAM2 Tetratricopeptide repeat protein 8 chr14 GO:0035295 Not Cancer Driver No 74 0.137 98 12 0.122 0
UBB_ENST00000614404 UBB P0CG47 Polyubiquitin-B chr17 GO:0035295 Not Cancer Driver No 20 0.087 102 8 0.078 0
VPS52 VPS52 Q8N1B4 Vacuolar protein sorting-associated protein 52 homolog chr6 GO:0035295 Not Cancer Driver No 89 0.123 36 5 0.139 0
WDR48 WDR48 Q8TAF3 WD repeat-containing protein 48 chr3 GO:0035295 Not Cancer Driver No 61 0.09 125 19 0.152 0
WNT11 WNT11 O96014 Protein Wnt-11 chr11 GO:0035295 Not Cancer Driver No 55 0.155 59 4 0.068 0
WNT4 WNT4 P56705 Protein Wnt-4 chr1 GO:0035295 Not Cancer Driver No 30 0.085 39 4 0.103 4
WNT5A_ENST00000474267 WNT5A P41221 Protein Wnt-5a chr3 GO:0035295 Not Cancer Driver No 66 0.174 0 0 0.0 2
WNT7A WNT7A O00755 Protein Wnt-7a chr3 GO:0035295 Not Cancer Driver No 93 0.266 18 9 0.5 4
WNT7B WNT7B P56706 Protein Wnt-7b chr22 GO:0035295 Not Cancer Driver No 55 0.158 11 1 0.091 0
WNT9B WNT9B O14905 Protein Wnt-9b chr17 GO:0035295 Not Cancer Driver No 47 0.132 11 4 0.364 0