Total number of protein in "GO:0001947" GO term: 63
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AHI1_ENST00000457866 | AHI1 | Q8N157 | Jouberin | chr6 | GO:0001947 | Not Cancer Driver | No | 120 | 0.1 | 500 | 56 | 0.112 | 6 |
| APLNR | APLNR | P35414 | Apelin receptor | chr11 | GO:0001947 | Not Cancer Driver | No | 96 | 0.253 | 29 | 8 | 0.276 | 0 |
| ARL13B | ARL13B | Q3SXY8 | ADP-ribosylation factor-like protein 13B | chr3 | GO:0001947 | Not Cancer Driver | No | 62 | 0.145 | 251 | 40 | 0.159 | 3 |
| ASB2 | ASB2 | Q96Q27 | Ankyrin repeat and SOCS box protein 2 | chr14 | GO:0001947 | Not Cancer Driver | No | 90 | 0.142 | 167 | 19 | 0.114 | 0 |
| BBS4 | BBS4 | Q96RK4 | Bardet-Biedl syndrome 4 protein | chr15 | GO:0001947 | Not Cancer Driver | No | 58 | 0.112 | 110 | 16 | 0.145 | 9 |
| BBS5 | BBS5 | Q8N3I7 | Bardet-Biedl syndrome 5 protein | chr2 | GO:0001947 | Not Cancer Driver | No | 39 | 0.114 | 20 | 1 | 0.05 | 2 |
| BBS7 | BBS7 | Q8IWZ6 | Bardet-Biedl syndrome 7 protein | chr4 | GO:0001947 | Not Cancer Driver | No | 99 | 0.138 | 56 | 8 | 0.143 | 4 |
| C2CD3 | C2CD3 | Q4AC94 | C2 domain-containing protein 3 | chr11 | GO:0001947 | Not Cancer Driver | No | 249 | 0.106 | 1104 | 106 | 0.096 | 1 |
| CCDC103 | CCDC103 | Q8IW40 | Coiled-coil domain-containing protein 103 | chr17 | GO:0001947 | Not Cancer Driver | No | 22 | 0.091 | 78 | 8 | 0.103 | 0 |
| CCDC39 | CCDC39 | Q9UFE4 | Coiled-coil domain-containing protein 39 | chr3 | GO:0001947 | Not Cancer Driver | No | 204 | 0.217 | 497 | 89 | 0.179 | 0 |
| CCDC40 | CCDC40 | Q4G0X9 | Coiled-coil domain-containing protein 40 | chr17 | GO:0001947 | Not Cancer Driver | No | 201 | 0.176 | 672 | 123 | 0.183 | 0 |
| CITED2_ENST00000367651 | CITED2 | Q99967 | Cbp/p300-interacting transactivator 2 | chr6 | GO:0001947 | Not Cancer Driver | No | 23 | 0.085 | 230 | 18 | 0.078 | 0 |
| DLL1 | DLL1 | O00548 | Delta-like protein 1 | chr6 | GO:0001947 | Not Cancer Driver | No | 115 | 0.159 | 145 | 24 | 0.166 | 1 |
| DNAAF1 | DNAAF1 | Q8NEP3 | Dynein axonemal assembly factor 1 | chr16 | GO:0001947 | Not Cancer Driver | No | 107 | 0.148 | 513 | 71 | 0.138 | 1 |
| ENG | ENG | P17813 | Endoglin | chr9 | GO:0001947 | Not Cancer Driver | No | 60 | 0.091 | 114 | 15 | 0.132 | 32 |
| FGF8_ENST00000344255 | FGF8 | P55075 | Fibroblast growth factor 8 | chr10 | GO:0001947 | Not Cancer Driver | No | 30 | 0.129 | 79 | 9 | 0.114 | 6 |
| FOLR1_ENST00000393681 | FOLR1 | P15328 | Folate receptor alpha | chr11 | GO:0001947 | Not Cancer Driver | No | 41 | 0.16 | 13 | 3 | 0.231 | 0 |
| FOXH1 | FOXH1 | O75593 | Forkhead box protein H1 | chr8 | GO:0001947 | Not Cancer Driver | No | 47 | 0.129 | 215 | 25 | 0.116 | 0 |
| FOXN4 | FOXN4 | Q96NZ1 | Forkhead box protein N4 | chr12 | GO:0001947 | Not Cancer Driver | No | 60 | 0.116 | 377 | 34 | 0.09 | 0 |
| GATA4_ENST00000335135 | GATA4 | P43694 | Transcription factor GATA-4 | chr8 | GO:0001947 | Not Cancer Driver | No | 48 | 0.109 | 301 | 34 | 0.113 | 18 |
| GJA1 | GJA1 | P17302 | Gap junction alpha-1 protein | chr6 | GO:0001947 | Not Cancer Driver | No | 86 | 0.225 | 110 | 26 | 0.236 | 50 |
| HAND1 | HAND1 | O96004 | Heart- and neural crest derivatives-expressed protein 1 | chr5 | GO:0001947 | Not Cancer Driver | No | 35 | 0.163 | 166 | 29 | 0.175 | 0 |
| HAND2 | HAND2 | P61296 | Heart- and neural crest derivatives-expressed protein 2 | chr4 | GO:0001947 | Not Cancer Driver | No | 47 | 0.217 | 124 | 29 | 0.234 | 0 |
| HIF1A_ENST00000337138 | HIF1A | Q16665 | Hypoxia-inducible factor 1-alpha | chr14 | GO:0001947 | Census | Yes | 118 | 0.143 | 435 | 51 | 0.117 | 0 |
| IFT172 | IFT172 | Q9UG01 | Intraflagellar transport protein 172 homolog | chr2 | GO:0001947 | Not Cancer Driver | No | 219 | 0.125 | 96 | 10 | 0.104 | 8 |
| IFT52_ENST00000373039 | IFT52 | Q9Y366 | Intraflagellar transport protein 52 homolog | chr20 | GO:0001947 | Not Cancer Driver | No | 60 | 0.137 | 56 | 7 | 0.125 | 1 |
| IFT57 | IFT57 | Q9NWB7 | Intraflagellar transport protein 57 homolog | chr3 | GO:0001947 | Not Cancer Driver | No | 46 | 0.107 | 219 | 18 | 0.082 | 0 |
| IHH | IHH | Q14623 | Indian hedgehog protein | chr2 | GO:0001947 | Not Cancer Driver | No | 58 | 0.141 | 111 | 15 | 0.135 | 6 |
| LBX1 | LBX1 | P52954 | Transcription factor LBX1 | chr10 | GO:0001947 | Not Cancer Driver | No | 26 | 0.093 | 181 | 18 | 0.099 | 0 |
| MEF2C_ENST00000504921 | MEF2C | Q06413 | Myocyte-specific enhancer factor 2C | chr5 | GO:0001947 | Not Cancer Driver | No | 92 | 0.195 | 408 | 81 | 0.199 | 0 |
| MESP1 | MESP1 | Q9BRJ9 | Mesoderm posterior protein 1 | chr15 | GO:0001947 | Not Cancer Driver | No | 8 | 0.03 | 247 | 7 | 0.028 | 0 |
| MIB1 | MIB1 | Q86YT6 | E3 ubiquitin-protein ligase MIB1 | chr18 | GO:0001947 | Not Cancer Driver | No | 122 | 0.121 | 282 | 34 | 0.121 | 1 |
| MICAL2_ENST00000646065 | MICAL2 | O94851 | [F-actin]-monooxygenase MICAL2 | chr11 | GO:0001947 | Not Cancer Driver | No | 297 | 0.152 | 1191 | 179 | 0.15 | 0 |
| MKKS | MKKS | Q9NPJ1 | McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin | chr20 | GO:0001947 | Not Cancer Driver | No | 56 | 0.098 | 6 | 1 | 0.167 | 22 |
| NDRG4_ENST00000570248 | NDRG4 | Q9ULP0 | Protein NDRG4 | chr16 | GO:0001947 | Not Cancer Driver | No | 44 | 0.125 | 90 | 11 | 0.122 | 0 |
| NKX2-5 | NKX2-5 | P52952 | Homeobox protein Nkx-2.5 | chr5 | GO:0001947 | Not Cancer Driver | No | 48 | 0.148 | 181 | 22 | 0.122 | 55 |
| NODAL | NODAL | Q96S42 | Nodal homolog | chr10 | GO:0001947 | Not Cancer Driver | No | 40 | 0.115 | 34 | 8 | 0.235 | 4 |
| NOTCH1 | NOTCH1 | P46531 | Neurogenic locus notch homolog protein 1 | chr9 | GO:0001947 | Census, Compendium | Yes | 363 | 0.142 | 686 | 87 | 0.127 | 3 |
| NOTCH2 | NOTCH2 | Q04721 | Neurogenic locus notch homolog protein 2 | chr1 | GO:0001947 | Census, Compendium | Yes | 282 | 0.114 | 630 | 77 | 0.122 | 1 |
| NOTO | NOTO | A8MTQ0 | Homeobox protein notochord | chr2 | GO:0001947 | Not Cancer Driver | No | 15 | 0.06 | 116 | 6 | 0.052 | 0 |
| NPHP3 | NPHP3 | Q7Z494 | Nephrocystin-3 | chr3 | GO:0001947 | Not Cancer Driver | No | 129 | 0.097 | 249 | 26 | 0.104 | 7 |
| OVOL2 | OVOL2 | Q9BRP0 | Transcription factor Ovo-like 2 | chr20 | GO:0001947 | Not Cancer Driver | No | 29 | 0.105 | 139 | 8 | 0.058 | 0 |
| PKD2 | PKD2 | Q13563 | Polycystin-2 | chr4 | GO:0001947 | Not Cancer Driver | No | 113 | 0.117 | 375 | 35 | 0.093 | 10 |
| PSEN1 | PSEN1 | P49768 | Presenilin-1 | chr14 | GO:0001947 | Not Cancer Driver | No | 61 | 0.131 | 134 | 21 | 0.157 | 96 |
| SETDB2 | SETDB2 | Q96T68 | Histone-lysine N-methyltransferase SETDB2 | chr13 | GO:0001947 | Not Cancer Driver | No | 70 | 0.097 | 253 | 26 | 0.103 | 0 |
| SHH | SHH | Q15465 | Sonic hedgehog protein | chr7 | GO:0001947 | Not Cancer Driver | No | 56 | 0.121 | 139 | 14 | 0.101 | 81 |
| SMAD3 | SMAD3 | P84022 | Mothers against decapentaplegic homolog 3 | chr15 | GO:0001947 | Census, Compendium | Yes | 97 | 0.228 | 111 | 19 | 0.171 | 5 |
| SMO | SMO | Q99835 | Smoothened homolog | chr7 | GO:0001947 | Census, Compendium | Yes | 112 | 0.142 | 241 | 27 | 0.112 | 1 |
| SOX17 | SOX17 | Q9H6I2 | Transcription factor SOX-17 | chr8 | GO:0001947 | Compendium | Yes | 81 | 0.196 | 378 | 59 | 0.156 | 2 |
| SOX18 | SOX18 | P35713 | Transcription factor SOX-18 | chr20 | GO:0001947 | Not Cancer Driver | No | 10 | 0.026 | 321 | 10 | 0.031 | 2 |
| SRF | SRF | P11831 | Serum response factor | chr6 | GO:0001947 | Not Cancer Driver | No | 44 | 0.087 | 443 | 42 | 0.095 | 0 |
| STIL_ENST00000360380 | STIL | Q15468 | SCL-interrupting locus protein | chr1 | GO:0001947 | Census, Compendium | Yes | 147 | 0.114 | 735 | 85 | 0.116 | 1 |
| SUFU | SUFU | Q9UMX1 | Suppressor of fused homolog | chr10 | GO:0001947 | Census | Yes | 55 | 0.114 | 199 | 19 | 0.095 | 2 |
| TBX2 | TBX2 | Q13207 | T-box transcription factor TBX2 | chr17 | GO:0001947 | Not Cancer Driver | No | 74 | 0.104 | 401 | 36 | 0.09 | 1 |
| TBX20 | TBX20 | Q9UMR3 | T-box transcription factor TBX20 | chr7 | GO:0001947 | Not Cancer Driver | No | 117 | 0.262 | 201 | 54 | 0.269 | 2 |
| TBX3 | TBX3 | O15119 | T-box transcription factor TBX3 | chr12 | GO:0001947 | Census, Compendium | Yes | 123 | 0.166 | 352 | 57 | 0.162 | 2 |
| TBX6 | TBX6 | O95947 | T-box transcription factor TBX6 | chr16 | GO:0001947 | Not Cancer Driver | No | 44 | 0.101 | 253 | 25 | 0.099 | 0 |
| TGFBR2_ENST00000295754 | TGFBR2 | P37173 | TGF-beta receptor type-2 | chr3 | GO:0001947 | Census, Compendium | Yes | 106 | 0.187 | 60 | 16 | 0.267 | 25 |
| TMED2 | TMED2 | Q15363 | Transmembrane emp24 domain-containing protein 2 | chr12 | GO:0001947 | Not Cancer Driver | No | 24 | 0.119 | 25 | 4 | 0.16 | 0 |
| VANGL2 | VANGL2 | Q9ULK5 | Vang-like protein 2 | chr1 | GO:0001947 | Not Cancer Driver | No | 122 | 0.234 | 150 | 37 | 0.247 | 3 |
| WNT3A | WNT3A | P56704 | Protein Wnt-3a | chr1 | GO:0001947 | Not Cancer Driver | No | 77 | 0.219 | 37 | 5 | 0.135 | 0 |
| WNT5A_ENST00000474267 | WNT5A | P41221 | Protein Wnt-5a | chr3 | GO:0001947 | Not Cancer Driver | No | 66 | 0.174 | 0 | 0 | 0.0 | 2 |
| ZIC3 | ZIC3 | O60481 | Zinc finger protein ZIC 3 | chrX | GO:0001947 | Not Cancer Driver | No | 100 | 0.214 | 327 | 66 | 0.202 | 10 |