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Total number of protein in "GO:0048731" GO term:  141

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
ACVR1_ENST00000434821 ACVR1 Q04771 Activin receptor type-1 chr2 GO:0048731 Census, Compendium Yes 78 0.153 21 8 0.381 8
ACVR2A_ENST00000404590 ACVR2A P27037 Activin receptor type-2A chr2 GO:0048731 Census, Compendium Yes 98 0.191 56 6 0.107 0
ACVR2B ACVR2B Q13705 Activin receptor type-2B chr3 GO:0048731 Not Cancer Driver No 83 0.162 70 14 0.2 2
ACVRL1 ACVRL1 P37023 Serine/threonine-protein kinase receptor R3 chr12 GO:0048731 Not Cancer Driver No 93 0.185 60 11 0.183 82
AK8 AK8 Q96MA6 Adenylate kinase 8 chr9 GO:0048731 Not Cancer Driver No 74 0.154 53 8 0.151 0
ANGPT1 ANGPT1 Q15389 Angiopoietin-1 chr8 GO:0048731 Not Cancer Driver No 130 0.261 131 24 0.183 1
ANGPT2 ANGPT2 O15123 Angiopoietin-2 chr8 GO:0048731 Not Cancer Driver No 63 0.127 96 10 0.104 1
ANP32B ANP32B Q92688 Acidic leucine-rich nuclear phosphoprotein 32 family member B chr9 GO:0048731 Not Cancer Driver No 22 0.088 117 12 0.103 0
ARMC4 ODAD2 Q5T2S8 Outer dynein arm-docking complex subunit 2 chr10 GO:0048731 Not Cancer Driver No 288 0.276 155 33 0.213 1
ARX ARX Q96QS3 Homeobox protein ARX chrX GO:0048731 Not Cancer Driver No 33 0.059 423 18 0.043 9
ASB1 ASB1 Q9Y576 Ankyrin repeat and SOCS box protein 1 chr2 GO:0048731 Not Cancer Driver No 49 0.146 37 2 0.054 0
ASCL1 ASCL1 P50553 Achaete-scute homolog 1 chr12 GO:0048731 Not Cancer Driver No 33 0.14 182 24 0.132 0
BARX1 BARX1 Q9HBU1 Homeobox protein BarH-like 1 chr9 GO:0048731 Not Cancer Driver No 12 0.047 165 9 0.055 0
BBS4 BBS4 Q96RK4 Bardet-Biedl syndrome 4 protein chr15 GO:0048731 Not Cancer Driver No 58 0.112 110 16 0.145 9
BMP5 BMP5 P22003 Bone morphogenetic protein 5 chr6 GO:0048731 Census Yes 163 0.359 112 62 0.554 0
BMP6 BMP6 P22004 Bone morphogenetic protein 6 chr6 GO:0048731 Not Cancer Driver No 95 0.185 226 51 0.226 0
BMP7 BMP7 P18075 Bone morphogenetic protein 7 chr20 GO:0048731 Not Cancer Driver No 91 0.211 69 18 0.261 0
BMPR2 BMPR2 Q13873 Bone morphogenetic protein receptor type-2 chr2 GO:0048731 Compendium Yes 141 0.136 601 70 0.116 19
CCDC134 CCDC134 Q9H6E4 Coiled-coil domain-containing protein 134 chr22 GO:0048731 Not Cancer Driver No 24 0.105 43 3 0.07 0
CDK20 CDK20 Q8IZL9 Cyclin-dependent kinase 20 chr9 GO:0048731 Not Cancer Driver No 36 0.104 32 1 0.031 0
CDKN1C CDKN1C P49918 Cyclin-dependent kinase inhibitor 1C chr11 GO:0048731 Not Cancer Driver No 2 0.006 256 1 0.004 7
CELSR2 CELSR2 Q9HCU4 Cadherin EGF LAG seven-pass G-type receptor 2 chr1 GO:0048731 Not Cancer Driver No 348 0.119 990 115 0.116 0
CENPF CENPF P49454 Centromere protein F chr1 GO:0048731 Not Cancer Driver No 387 0.124 2136 260 0.122 0
CNTNAP2 CNTNAP2 Q9UHC6 Contactin-associated protein-like 2 chr7 GO:0048731 Census Yes 570 0.428 161 82 0.509 0
COL1A1 COL1A1 P02452 Collagen alpha-1(I) chain chr17 GO:0048731 Census, Compendium Yes 247 0.169 1212 214 0.177 148
CTNNB1_ENST00000643977 CTNNB1 P35222 Catenin beta-1 chr3 GO:0048731 Census, Compendium Yes 415 0.531 288 301 1.045 14
DEAF1 DEAF1 O75398 Deformed epidermal autoregulatory factor 1 homolog chr11 GO:0048731 Not Cancer Driver No 75 0.133 370 51 0.138 4
DHCR24 DHCR24 Q15392 Delta(24)-sterol reductase chr1 GO:0048731 Not Cancer Driver No 55 0.107 0 0 0.0 6
DLX1 DLX1 P56177 Homeobox protein DLX-1 chr2 GO:0048731 Not Cancer Driver No 25 0.098 183 21 0.115 0
DMRT2 DMRT2 Q9Y5R5 Doublesex- and mab-3-related transcription factor 2 chr9 GO:0048731 Not Cancer Driver No 72 0.128 335 31 0.093 0
DPPA2 DPPA2 Q7Z7J5 Developmental pluripotency-associated protein 2 chr3 GO:0048731 Not Cancer Driver No 104 0.349 140 52 0.371 0
DPPA4 DPPA4 Q7L190 Developmental pluripotency-associated protein 4 chr3 GO:0048731 Not Cancer Driver No 94 0.309 180 46 0.256 0
ECE1 ECE1 P42892 Endothelin-converting enzyme 1 chr1 GO:0048731 Not Cancer Driver No 118 0.153 99 26 0.263 1
EDNRA EDNRA P25101 Endothelin-1 receptor chr4 GO:0048731 Not Cancer Driver No 62 0.145 21 6 0.286 2
EDNRB_ENST00000334286 EDNRB P24530 Endothelin receptor type B chr13 GO:0048731 Not Cancer Driver No 112 0.253 56 19 0.339 6
ERRFI1 ERRFI1 Q9UJM3 ERBB receptor feedback inhibitor 1 chr1 GO:0048731 Not Cancer Driver No 55 0.119 297 37 0.125 0
EXT1 EXT1 Q16394 Exostosin-1 chr8 GO:0048731 Census Yes 107 0.143 58 7 0.121 12
EYA1_ENST00000647540 EYA1 Q99502 Eyes absent homolog 1 chr8 GO:0048731 Not Cancer Driver No 168 0.284 341 99 0.29 15
FGF8_ENST00000344255 FGF8 P55075 Fibroblast growth factor 8 chr10 GO:0048731 Not Cancer Driver No 30 0.129 79 9 0.114 6
FGF9 FGF9 P31371 Fibroblast growth factor 9 chr13 GO:0048731 Not Cancer Driver No 41 0.197 43 10 0.233 1
FOXF1 FOXF1 Q12946 Forkhead box protein F1 chr16 GO:0048731 Not Cancer Driver No 56 0.148 194 20 0.103 20
GATA3_ENST00000346208 GATA3 P23771 Trans-acting T-cell-specific transcription factor GATA-3 chr10 GO:0048731 Census, Compendium Yes 111 0.251 364 87 0.239 2
GBX2 GBX2 P52951 Homeobox protein GBX-2 chr2 GO:0048731 Not Cancer Driver No 43 0.124 243 31 0.128 0
GDNF_ENST00000326524 GDNF P39905 Glial cell line-derived neurotrophic factor chr5 GO:0048731 Not Cancer Driver No 47 0.223 83 18 0.217 2
GFRA3 GFRA3 O60609 GDNF family receptor alpha-3 chr5 GO:0048731 Not Cancer Driver No 50 0.125 40 4 0.1 0
GIP GIP P09681 Gastric inhibitory polypeptide chr17 GO:0048731 Not Cancer Driver No 35 0.229 68 16 0.235 0
GREB1L GREB1L Q9C091 GREB1-like protein chr18 GO:0048731 Not Cancer Driver No 87 0.045 480 22 0.046 25
HAND2 HAND2 P61296 Heart- and neural crest derivatives-expressed protein 2 chr4 GO:0048731 Not Cancer Driver No 47 0.217 124 29 0.234 0
HES1 HES1 Q14469 Transcription factor HES-1 chr3 GO:0048731 Not Cancer Driver No 37 0.132 226 32 0.142 0
HIF1A_ENST00000337138 HIF1A Q16665 Hypoxia-inducible factor 1-alpha chr14 GO:0048731 Census Yes 118 0.143 435 51 0.117 0
HIP1R HIP1R O75146 Huntingtin-interacting protein 1-related protein chr12 GO:0048731 Not Cancer Driver No 94 0.088 524 34 0.065 0
HLX HLX Q14774 H2.0-like homeobox protein chr1 GO:0048731 Not Cancer Driver No 107 0.219 412 98 0.238 0
HOXA13 HOXA13 P31271 Homeobox protein Hox-A13 chr7 GO:0048731 Census Yes 37 0.095 171 22 0.129 4
HOXA2 HOXA2 O43364 Homeobox protein Hox-A2 chr7 GO:0048731 Not Cancer Driver No 58 0.154 281 48 0.171 1
HOXC5 HOXC5 Q00444 Homeobox protein Hox-C5 chr12 GO:0048731 Not Cancer Driver No 35 0.158 141 20 0.142 0
HOXC6 HOXC6 P09630 Homeobox protein Hox-C6 chr12 GO:0048731 Not Cancer Driver No 45 0.191 111 28 0.252 0
HOXD1 HOXD1 Q9GZZ0 Homeobox protein Hox-D1 chr2 GO:0048731 Not Cancer Driver No 39 0.119 124 17 0.137 0
HOXD13 HOXD13 P35453 Homeobox protein Hox-D13 chr2 GO:0048731 Census, Compendium Yes 43 0.125 113 12 0.106 9
HSD17B3 HSD17B3 P37058 17-beta-hydroxysteroid dehydrogenase type 3 chr9 GO:0048731 Not Cancer Driver No 42 0.135 0 0 0.0 15
HYDIN HYDIN Q4G0P3 Hydrocephalus-inducing protein homolog chr16 GO:0048731 Not Cancer Driver No 875 0.171 1017 177 0.174 0
IHH IHH Q14623 Indian hedgehog protein chr2 GO:0048731 Not Cancer Driver No 58 0.141 111 15 0.135 6
IMMP2L_ENST00000452895 IMMP2L Q96T52 Mitochondrial inner membrane protease subunit 2 chr7 GO:0048731 Not Cancer Driver No 36 0.206 29 7 0.241 0
ISL1 ISL1 P61371 Insulin gene enhancer protein ISL-1 chr5 GO:0048731 Not Cancer Driver No 85 0.244 180 41 0.228 0
ISX_ENST00000404699 ISX Q2M1V0 Intestine-specific homeobox chr22 GO:0048731 Census Yes 64 0.261 102 32 0.314 0
KIAA1217 KIAA1217 Q5T5P2 Sickle tail protein homolog chr10 GO:0048731 Not Cancer Driver No 362 0.186 1743 328 0.188 0
KIF26A KIF26A Q9ULI4 Kinesin-like protein KIF26A chr14 GO:0048731 Not Cancer Driver No 154 0.082 1422 112 0.079 0
KIF27 KIF27 Q86VH2 Kinesin-like protein KIF27 chr9 GO:0048731 Not Cancer Driver No 178 0.127 722 95 0.132 0
LGR4 LGR4 Q9BXB1 Leucine-rich repeat-containing G-protein coupled receptor 4 chr11 GO:0048731 Not Cancer Driver No 108 0.114 16 3 0.188 0
LHCGR LHCGR P22888 Lutropin-choriogonadotropic hormone receptor chr2 GO:0048731 Not Cancer Driver No 181 0.259 12 8 0.667 25
LIF LIF P15018 Leukemia inhibitory factor chr22 GO:0048731 Not Cancer Driver No 25 0.124 0 0 0.0 0
MBOAT7 MBOAT7 Q96N66 Lysophospholipid acyltransferase 7 chr19 GO:0048731 Not Cancer Driver No 69 0.146 25 3 0.12 0
MBTD1_ENST00000415868 MBTD1 Q05BQ5 MBT domain-containing protein 1 chr17 GO:0048731 Not Cancer Driver No 66 0.105 119 8 0.067 0
MECP2_ENST00000303391 MECP2 P51608 Methyl-CpG-binding protein 2 chrX GO:0048731 Not Cancer Driver No 75 0.154 483 74 0.153 46
MKS1 MKS1 Q9NXB0 Meckel syndrome type 1 protein chr17 GO:0048731 Not Cancer Driver No 82 0.147 152 23 0.151 2
MNAT1 MNAT1 P51948 CDK-activating kinase assembly factor MAT1 chr14 GO:0048731 Not Cancer Driver No 23 0.074 64 2 0.031 0
NF1 NF1 P21359 Neurofibromin chr17 GO:0048731 Census, Compendium Yes 375 0.132 406 47 0.116 85
NKX2-5 NKX2-5 P52952 Homeobox protein Nkx-2.5 chr5 GO:0048731 Not Cancer Driver No 48 0.148 181 22 0.122 55
NKX2-6 NKX2-6 A6NCS4 Homeobox protein Nkx-2.6 chr8 GO:0048731 Not Cancer Driver No 10 0.033 243 7 0.029 3
NKX3-1 NKX3-1 Q99801 Homeobox protein Nkx-3.1 chr8 GO:0048731 Not Cancer Driver No 35 0.15 171 16 0.094 0
NKX3-2 NKX3-2 P78367 Homeobox protein Nkx-3.2 chr4 GO:0048731 Not Cancer Driver No 36 0.108 212 27 0.127 0
NME5 NME5 P56597 Nucleoside diphosphate kinase homolog 5 chr5 GO:0048731 Not Cancer Driver No 17 0.08 6 0 0.0 0
NOG NOG Q13253 Noggin chr17 GO:0048731 Not Cancer Driver No 22 0.095 86 9 0.105 20
NTRK1 NTRK1 P04629 High affinity nerve growth factor receptor chr1 GO:0048731 Census, Compendium Yes 168 0.211 57 8 0.14 25
OSR1 OSR1 Q8TAX0 Protein odd-skipped-related 1 chr2 GO:0048731 Not Cancer Driver No 57 0.214 67 17 0.254 0
OSR2_ENST00000522510 OSR2 Q8N2R0 Protein odd-skipped-related 2 chr8 GO:0048731 Not Cancer Driver No 59 0.189 66 13 0.197 0
PBX1 PBX1 P40424 Pre-B-cell leukemia transcription factor 1 chr1 GO:0048731 Census Yes 82 0.191 290 57 0.197 0
PCSK5 PCSK5 Q92824 Proprotein convertase subtilisin/kexin type 5 chr9 GO:0048731 Not Cancer Driver No 319 0.172 168 25 0.149 0
PDGFRA PDGFRA P16234 Platelet-derived growth factor receptor alpha chr4 GO:0048731 Census, Compendium Yes 290 0.266 173 45 0.26 2
PDGFRB PDGFRB P09619 Platelet-derived growth factor receptor beta chr5 GO:0048731 Census, Compendium Yes 164 0.148 231 44 0.19 7
PHACTR4_ENST00000373839 PHACTR4 Q8IZ21 Phosphatase and actin regulator 4 chr1 GO:0048731 Not Cancer Driver No 80 0.114 679 76 0.112 0
PHOX2A PHOX2A O14813 Paired mesoderm homeobox protein 2A chr11 GO:0048731 Not Cancer Driver No 20 0.07 172 12 0.07 1
PHOX2B PHOX2B Q99453 Paired mesoderm homeobox protein 2B chr4 GO:0048731 Census Yes 59 0.188 219 44 0.201 2
PLXNA2 PLXNA2 O75051 Plexin-A2 chr1 GO:0048731 Not Cancer Driver No 312 0.165 142 25 0.176 0
PLXNA4 PLXNA4 Q9HCM2 Plexin-A4 chr7 GO:0048731 Not Cancer Driver No 591 0.312 198 63 0.318 0
PRLH PRLH P81277 Prolactin-releasing peptide chr2 GO:0048731 Not Cancer Driver No 10 0.115 28 3 0.107 0
PTCH1 PTCH1 Q13635 Protein patched homolog 1 chr9 GO:0048731 Census, Compendium Yes 243 0.168 382 67 0.175 18
RAB26 RAB26 Q9ULW5 Ras-related protein Rab-26 chr16 GO:0048731 Not Cancer Driver No 29 0.113 79 4 0.051 0
RAPGEF2 RAPGEF2 Q9Y4G8 Rap guanine nucleotide exchange factor 2 chr4 GO:0048731 Not Cancer Driver No 216 0.144 803 116 0.144 0
RBP4 RBP4 P02753 Retinol-binding protein 4 chr10 GO:0048731 Not Cancer Driver No 30 0.149 8 1 0.125 4
RET RET P07949 Proto-oncogene tyrosine-protein kinase receptor Ret chr10 GO:0048731 Census, Compendium Yes 208 0.187 105 12 0.114 139
RHOXF1 RHOXF1 Q8NHV9 Rhox homeobox family member 1 chrX GO:0048731 Not Cancer Driver No 41 0.223 152 36 0.237 0
RIPPLY3 RIPPLY3 P57055 Protein ripply3 chr21 GO:0048731 Not Cancer Driver No 44 0.232 190 44 0.232 0
ROM1 ROM1 Q03395 Rod outer segment membrane protein 1 chr11 GO:0048731 Not Cancer Driver No 41 0.117 26 4 0.154 0
ROR2 ROR2 Q01974 Tyrosine-protein kinase transmembrane receptor ROR2 chr9 GO:0048731 Not Cancer Driver No 203 0.215 299 71 0.237 5
SEMA3A SEMA3A Q14563 Semaphorin-3A chr7 GO:0048731 Not Cancer Driver No 195 0.253 164 46 0.28 10
SEMA6D_ENST00000536845 SEMA6D Q8NFY4 Semaphorin-6D chr15 GO:0048731 Not Cancer Driver No 212 0.198 475 99 0.208 0
SHH SHH Q15465 Sonic hedgehog protein chr7 GO:0048731 Not Cancer Driver No 56 0.121 139 14 0.101 81
SIX1_ENST00000645694 SIX1 Q15475 Homeobox protein SIX1 chr14 GO:0048731 Census, Compendium Yes 49 0.173 144 25 0.174 8
SIX4 SIX4 Q9UIU6 Homeobox protein SIX4 chr14 GO:0048731 Not Cancer Driver No 99 0.127 460 58 0.126 0
SLC2A10 SLC2A10 O95528 Solute carrier family 2, facilitated glucose transporter member 10 chr20 GO:0048731 Not Cancer Driver No 98 0.181 72 15 0.208 8
SLC7A11 SLC7A11 Q9UPY5 Cystine/glutamate transporter chr4 GO:0048731 Not Cancer Driver No 70 0.14 15 2 0.133 0
SOX10_ENST00000360880 SOX10 P56693 Transcription factor SOX-10 chr22 GO:0048731 Not Cancer Driver No 66 0.142 421 62 0.147 14
SOX11 SOX11 P35716 Transcription factor SOX-11 chr2 GO:0048731 Not Cancer Driver No 61 0.138 368 53 0.144 2
SOX4 SOX4 Q06945 Transcription factor SOX-4 chr6 GO:0048731 Not Cancer Driver No 28 0.059 400 24 0.06 4
SOX8 SOX8 P57073 Transcription factor SOX-8 chr16 GO:0048731 Not Cancer Driver No 43 0.096 403 39 0.097 0
SP3 SP3 Q02447 Transcription factor Sp3 chr2 GO:0048731 Not Cancer Driver No 66 0.085 587 37 0.063 0
SPEF2 SPEF2 Q9C093 Sperm flagellar protein 2 chr5 GO:0048731 Not Cancer Driver No 396 0.217 739 176 0.238 0
SRD5A1 SRD5A1 P18405 3-oxo-5-alpha-steroid 4-dehydrogenase 1 chr5 GO:0048731 Not Cancer Driver No 35 0.135 0 0 0.0 0
SRD5A2 SRD5A2 P31213 3-oxo-5-alpha-steroid 4-dehydrogenase 2 chr2 GO:0048731 Not Cancer Driver No 48 0.189 0 0 0.0 21
STRA6_ENST00000323940 STRA6 Q9BX79 Receptor for retinol uptake STRA6 chr15 GO:0048731 Not Cancer Driver No 77 0.115 84 14 0.167 6
SULF1_ENST00000458141 SULF1 Q8IWU6 Extracellular sulfatase Sulf-1 chr8 GO:0048731 Not Cancer Driver No 246 0.282 269 71 0.264 0
SULF2_ENST00000484875 SULF2 Q8IWU5 Extracellular sulfatase Sulf-2 chr20 GO:0048731 Not Cancer Driver No 145 0.167 142 18 0.127 0
TAPT1 TAPT1 Q6NXT6 Transmembrane anterior posterior transformation protein 1 homolog chr4 GO:0048731 Not Cancer Driver No 47 0.083 131 12 0.092 1
TBX1_ENST00000329705 TBX1 O43435 T-box transcription factor TBX1 chr22 GO:0048731 Not Cancer Driver No 35 0.088 197 12 0.061 4
TBX3 TBX3 O15119 T-box transcription factor TBX3 chr12 GO:0048731 Census, Compendium Yes 123 0.166 352 57 0.162 2
TCF21 TCF21 O43680 Transcription factor 21 chr6 GO:0048731 Not Cancer Driver No 55 0.307 120 40 0.333 0
TEK TEK Q02763 Angiopoietin-1 receptor chr9 GO:0048731 Not Cancer Driver No 219 0.195 126 22 0.175 10
TFAP2B TFAP2B Q92481 Transcription factor AP-2-beta chr6 GO:0048731 Not Cancer Driver No 114 0.248 306 75 0.245 6
TGFBR1_ENST00000374994 TGFBR1 P36897 TGF-beta receptor type-1 chr9 GO:0048731 Not Cancer Driver No 86 0.171 23 3 0.13 15
TLX2 TLX2 O43763 T-cell leukemia homeobox protein 2 chr2 GO:0048731 Not Cancer Driver No 24 0.085 220 15 0.068 0
TP63 TP63 Q9H3D4 Tumor protein 63 chr3 GO:0048731 Census, Compendium Yes 229 0.337 398 143 0.359 28
TTC21B TTC21B Q7Z4L5 Tetratricopeptide repeat protein 21B chr2 GO:0048731 Not Cancer Driver No 176 0.134 73 14 0.192 11
UCMA UCMA Q8WVF2 Unique cartilage matrix-associated protein chr10 GO:0048731 Not Cancer Driver No 33 0.239 96 22 0.229 0
VSTM4 VSTM4 Q8IW00 V-set and transmembrane domain-containing protein 4 chr10 GO:0048731 Not Cancer Driver No 91 0.284 47 9 0.191 0
WDPCP WDPCP O95876 WD repeat-containing and planar cell polarity effector protein fritz homolog chr2 GO:0048731 Not Cancer Driver No 114 0.153 75 13 0.173 1
WDR19 WDR19 Q8NEZ3 WD repeat-containing protein 19 chr4 GO:0048731 Not Cancer Driver No 117 0.087 19 0 0.0 11
WNT11 WNT11 O96014 Protein Wnt-11 chr11 GO:0048731 Not Cancer Driver No 55 0.155 59 4 0.068 0
WNT5A_ENST00000474267 WNT5A P41221 Protein Wnt-5a chr3 GO:0048731 Not Cancer Driver No 66 0.174 0 0 0.0 2
WNT9A WNT9A O14904 Protein Wnt-9a chr1 GO:0048731 Not Cancer Driver No 74 0.203 44 11 0.25 0
WNT9B WNT9B O14905 Protein Wnt-9b chr17 GO:0048731 Not Cancer Driver No 47 0.132 11 4 0.364 0
XYLT1 XYLT1 Q86Y38 Xylosyltransferase 1 chr16 GO:0048731 Not Cancer Driver No 192 0.2 323 38 0.118 3