Total number of protein in "GO:0048839" GO term: 48
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADGRV1_ENST00000645211 | ADGRV1 | Q8WXG9 | Adhesion G-protein coupled receptor V1 | chr5 | GO:0048839 | Not Cancer Driver | No | 1124 | 0.178 | 496 | 77 | 0.155 | 2 |
AHI1_ENST00000457866 | AHI1 | Q8N157 | Jouberin | chr6 | GO:0048839 | Not Cancer Driver | No | 120 | 0.1 | 500 | 56 | 0.112 | 6 |
ANP32B | ANP32B | Q92688 | Acidic leucine-rich nuclear phosphoprotein 32 family member B | chr9 | GO:0048839 | Not Cancer Driver | No | 22 | 0.088 | 117 | 12 | 0.103 | 0 |
BMP2 | BMP2 | P12643 | Bone morphogenetic protein 2 | chr20 | GO:0048839 | Not Cancer Driver | No | 73 | 0.184 | 139 | 26 | 0.187 | 0 |
BMPER | BMPER | Q8N8U9 | BMP-binding endothelial regulator protein | chr7 | GO:0048839 | Not Cancer Driver | No | 196 | 0.286 | 0 | 0 | 0.0 | 1 |
C1QTNF5_ENST00000530681 | C1QTNF5 | Q9BXJ0 | Complement C1q tumor necrosis factor-related protein 5 | chr11 | GO:0048839 | Not Cancer Driver | No | 18 | 0.074 | 128 | 3 | 0.023 | 1 |
CCM2_ENST00000258781 | CCM2 | Q9BSQ5 | Cerebral cavernous malformations 2 protein | chr7 | GO:0048839 | Not Cancer Driver | No | 58 | 0.131 | 132 | 8 | 0.061 | 3 |
CDKN1B | CDKN1B | P46527 | Cyclin-dependent kinase inhibitor 1B | chr12 | GO:0048839 | Census, Compendium | Yes | 19 | 0.096 | 198 | 19 | 0.096 | 0 |
CEBPA | CEBPA | P49715 | CCAAT/enhancer-binding protein alpha | chr19 | GO:0048839 | Census, Compendium | Yes | 12 | 0.034 | 342 | 12 | 0.035 | 1 |
CEBPD | CEBPD | P49716 | CCAAT/enhancer-binding protein delta | chr8 | GO:0048839 | Not Cancer Driver | No | 5 | 0.019 | 234 | 4 | 0.017 | 0 |
COL2A1 | COL2A1 | P02458 | Collagen alpha-1(II) chain | chr12 | GO:0048839 | Census | Yes | 258 | 0.174 | 1215 | 207 | 0.17 | 64 |
CYTL1 | CYTL1 | Q9NRR1 | Cytokine-like protein 1 | chr4 | GO:0048839 | Not Cancer Driver | No | 29 | 0.213 | 1 | 0 | 0.0 | 0 |
DCANP1 | DCANP1 | Q8TF63 | Dendritic cell nuclear protein 1 | chr5 | GO:0048839 | Not Cancer Driver | No | 44 | 0.18 | 159 | 35 | 0.22 | 0 |
DLL1 | DLL1 | O00548 | Delta-like protein 1 | chr6 | GO:0048839 | Not Cancer Driver | No | 115 | 0.159 | 145 | 24 | 0.166 | 1 |
ESRRB_ENST00000512784 | ESRRB | O95718 | Steroid hormone receptor ERR2 | chr14 | GO:0048839 | Not Cancer Driver | No | 90 | 0.208 | 35 | 7 | 0.2 | 4 |
EYA4_ENST00000367895 | EYA4 | O95677 | Eyes absent homolog 4 | chr6 | GO:0048839 | Not Cancer Driver | No | 183 | 0.286 | 337 | 108 | 0.32 | 2 |
FREM2 | FREM2 | Q5SZK8 | FRAS1-related extracellular matrix protein 2 | chr13 | GO:0048839 | Not Cancer Driver | No | 570 | 0.18 | 781 | 156 | 0.2 | 3 |
GATA3_ENST00000346208 | GATA3 | P23771 | Trans-acting T-cell-specific transcription factor GATA-3 | chr10 | GO:0048839 | Census, Compendium | Yes | 111 | 0.251 | 364 | 87 | 0.239 | 2 |
GJB2_ENST00000382848 | GJB2 | P29033 | Gap junction beta-2 protein | chr13 | GO:0048839 | Not Cancer Driver | No | 34 | 0.15 | 0 | 0 | 0.0 | 46 |
GJB6_ENST00000644667 | GJB6 | O95452 | Gap junction beta-6 protein | chr13 | GO:0048839 | Not Cancer Driver | No | 42 | 0.161 | 12 | 4 | 0.333 | 4 |
HOXA13 | HOXA13 | P31271 | Homeobox protein Hox-A13 | chr7 | GO:0048839 | Census | Yes | 37 | 0.095 | 171 | 22 | 0.129 | 4 |
HOXA1_ENST00000643460 | HOXA1 | P49639 | Homeobox protein Hox-A1 | chr7 | GO:0048839 | Not Cancer Driver | No | 90 | 0.269 | 262 | 68 | 0.26 | 0 |
HPCA | HPCA | P84074 | Neuron-specific calcium-binding protein hippocalcin | chr1 | GO:0048839 | Not Cancer Driver | No | 24 | 0.124 | 42 | 4 | 0.095 | 3 |
KCNQ1 | KCNQ1 | P51787 | Potassium voltage-gated channel subfamily KQT member 1 | chr11 | GO:0048839 | Not Cancer Driver | No | 78 | 0.115 | 219 | 20 | 0.091 | 132 |
LGR5 | LGR5 | O75473 | Leucine-rich repeat-containing G-protein coupled receptor 5 | chr12 | GO:0048839 | Not Cancer Driver | No | 124 | 0.137 | 13 | 2 | 0.154 | 0 |
LHX3_ENST00000371748 | LHX3 | Q9UBR4 | LIM/homeobox protein Lhx3 | chr9 | GO:0048839 | Not Cancer Driver | No | 38 | 0.096 | 232 | 14 | 0.06 | 2 |
LIN7A | LIN7A | O14910 | Protein lin-7 homolog A | chr12 | GO:0048839 | Not Cancer Driver | No | 76 | 0.326 | 127 | 29 | 0.228 | 0 |
LRP10 | LRP10 | Q7Z4F1 | Low-density lipoprotein receptor-related protein 10 | chr14 | GO:0048839 | Not Cancer Driver | No | 99 | 0.139 | 237 | 32 | 0.135 | 0 |
MAF_ENST00000393350 | MAF | O75444 | Transcription factor Maf | chr16 | GO:0048839 | Census, Compendium | Yes | 39 | 0.105 | 331 | 37 | 0.112 | 11 |
MAPKAPK2 | MAPKAPK2 | P49137 | MAP kinase-activated protein kinase 2 | chr1 | GO:0048839 | Not Cancer Driver | No | 43 | 0.107 | 92 | 5 | 0.054 | 0 |
MPV17 | MPV17 | P39210 | Protein Mpv17 | chr2 | GO:0048839 | Not Cancer Driver | No | 21 | 0.119 | 0 | 0 | 0.0 | 16 |
NEUROD1 | NEUROD1 | Q13562 | Neurogenic differentiation factor 1 | chr2 | GO:0048839 | Not Cancer Driver | No | 84 | 0.236 | 202 | 52 | 0.257 | 2 |
NEUROG1 | NEUROG1 | Q92886 | Neurogenin-1 | chr5 | GO:0048839 | Not Cancer Driver | No | 27 | 0.114 | 178 | 18 | 0.101 | 0 |
PAX8 | PAX8 | Q06710 | Paired box protein Pax-8 | chr2 | GO:0048839 | Census | Yes | 84 | 0.187 | 291 | 55 | 0.189 | 4 |
PCDH15_ENST00000320301 | PCDH15 | Q96QU1 | Protocadherin-15 | chr10 | GO:0048839 | Not Cancer Driver | No | 808 | 0.413 | 686 | 272 | 0.397 | 4 |
PDGFA | PDGFA | P04085 | Platelet-derived growth factor subunit A | chr7 | GO:0048839 | Not Cancer Driver | No | 31 | 0.147 | 75 | 10 | 0.133 | 0 |
PDGFRB | PDGFRB | P09619 | Platelet-derived growth factor receptor beta | chr5 | GO:0048839 | Census, Compendium | Yes | 164 | 0.148 | 231 | 44 | 0.19 | 7 |
PHOX2B | PHOX2B | Q99453 | Paired mesoderm homeobox protein 2B | chr4 | GO:0048839 | Census | Yes | 59 | 0.188 | 219 | 44 | 0.201 | 2 |
PLPPR4 | PLPPR4 | Q7Z2D5 | Phospholipid phosphatase-related protein type 4 | chr1 | GO:0048839 | Not Cancer Driver | No | 177 | 0.232 | 457 | 118 | 0.258 | 0 |
PTPN11_ENST00000351677 | PTPN11 | Q06124 | Tyrosine-protein phosphatase non-receptor type 11 | chr12 | GO:0048839 | Census, Compendium | Yes | 129 | 0.218 | 260 | 38 | 0.146 | 60 |
ROR1 | ROR1 | Q01973 | Inactive tyrosine-protein kinase transmembrane receptor ROR1 | chr1 | GO:0048839 | Not Cancer Driver | No | 144 | 0.154 | 280 | 43 | 0.154 | 1 |
SHH | SHH | Q15465 | Sonic hedgehog protein | chr7 | GO:0048839 | Not Cancer Driver | No | 56 | 0.121 | 139 | 14 | 0.101 | 81 |
SIX1_ENST00000645694 | SIX1 | Q15475 | Homeobox protein SIX1 | chr14 | GO:0048839 | Census, Compendium | Yes | 49 | 0.173 | 144 | 25 | 0.174 | 8 |
SOX2 | SOX2 | P48431 | Transcription factor SOX-2 | chr3 | GO:0048839 | Census | Yes | 39 | 0.123 | 312 | 39 | 0.125 | 0 |
STOX1_ENST00000399169 | STOX1 | Q6ZVD7 | Storkhead-box protein 1 | chr10 | GO:0048839 | Not Cancer Driver | No | 121 | 0.122 | 659 | 83 | 0.126 | 2 |
TGFB2_ENST00000366930 | TGFB2 | P61812 | Transforming growth factor beta-2 proprotein | chr1 | GO:0048839 | Not Cancer Driver | No | 63 | 0.152 | 47 | 8 | 0.17 | 3 |
TGFB3 | TGFB3 | P10600 | Transforming growth factor beta-3 proprotein | chr14 | GO:0048839 | Not Cancer Driver | No | 45 | 0.109 | 96 | 14 | 0.146 | 1 |
TIFAB | TIFAB | Q6ZNK6 | TRAF-interacting protein with FHA domain-containing protein B | chr5 | GO:0048839 | Not Cancer Driver | No | 32 | 0.199 | 26 | 7 | 0.269 | 0 |