Total number of protein in "GO:0048738" GO term: 57
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS9 | ADAMTS9 | Q9P2N4 | A disintegrin and metalloproteinase with thrombospondin motifs 9 | chr3 | GO:0048738 | Not Cancer Driver | No | 288 | 0.149 | 235 | 38 | 0.162 | 0 |
ALDH1A2 | ALDH1A2 | O94788 | Retinal dehydrogenase 2 | chr15 | GO:0048738 | Not Cancer Driver | No | 100 | 0.193 | 56 | 13 | 0.232 | 0 |
BMP4 | BMP4 | P12644 | Bone morphogenetic protein 4 | chr14 | GO:0048738 | Not Cancer Driver | No | 86 | 0.211 | 142 | 26 | 0.183 | 5 |
BMP5 | BMP5 | P22003 | Bone morphogenetic protein 5 | chr6 | GO:0048738 | Census | Yes | 163 | 0.359 | 112 | 62 | 0.554 | 0 |
BMP7 | BMP7 | P18075 | Bone morphogenetic protein 7 | chr20 | GO:0048738 | Not Cancer Driver | No | 91 | 0.211 | 69 | 18 | 0.261 | 0 |
BMPR1A | BMPR1A | P36894 | Bone morphogenetic protein receptor type-1A | chr10 | GO:0048738 | Census, Compendium | Yes | 66 | 0.124 | 21 | 0 | 0.0 | 8 |
BMPR2 | BMPR2 | Q13873 | Bone morphogenetic protein receptor type-2 | chr2 | GO:0048738 | Compendium | Yes | 141 | 0.136 | 601 | 70 | 0.116 | 19 |
CACNA1G | CACNA1G | O43497 | Voltage-dependent T-type calcium channel subunit alpha-1G | chr17 | GO:0048738 | Not Cancer Driver | No | 367 | 0.154 | 1022 | 149 | 0.146 | 3 |
CDC42_ENST00000344548 | CDC42 | P60953 | Cell division control protein 42 homolog | chr1 | GO:0048738 | Not Cancer Driver | No | 39 | 0.204 | 23 | 2 | 0.087 | 1 |
CSRP3 | CSRP3 | P50461 | Cysteine and glycine-rich protein 3 | chr11 | GO:0048738 | Not Cancer Driver | No | 25 | 0.129 | 31 | 1 | 0.032 | 2 |
DSG2 | DSG2 | Q14126 | Desmoglein-2 | chr18 | GO:0048738 | Not Cancer Driver | No | 173 | 0.155 | 476 | 68 | 0.143 | 5 |
EDNRA | EDNRA | P25101 | Endothelin-1 receptor | chr4 | GO:0048738 | Not Cancer Driver | No | 62 | 0.145 | 21 | 6 | 0.286 | 2 |
GATA4_ENST00000335135 | GATA4 | P43694 | Transcription factor GATA-4 | chr8 | GO:0048738 | Not Cancer Driver | No | 48 | 0.109 | 301 | 34 | 0.113 | 18 |
GATA5 | GATA5 | Q9BWX5 | Transcription factor GATA-5 | chr20 | GO:0048738 | Not Cancer Driver | No | 40 | 0.101 | 268 | 24 | 0.09 | 9 |
GATA6 | GATA6 | Q92908 | Transcription factor GATA-6 | chr18 | GO:0048738 | Not Cancer Driver | No | 57 | 0.096 | 476 | 51 | 0.107 | 10 |
GJA1 | GJA1 | P17302 | Gap junction alpha-1 protein | chr6 | GO:0048738 | Not Cancer Driver | No | 86 | 0.225 | 110 | 26 | 0.236 | 50 |
GJA5 | GJA5 | P36382 | Gap junction alpha-5 protein | chr1 | GO:0048738 | Not Cancer Driver | No | 74 | 0.207 | 92 | 21 | 0.228 | 5 |
GJB6_ENST00000644667 | GJB6 | O95452 | Gap junction beta-6 protein | chr13 | GO:0048738 | Not Cancer Driver | No | 42 | 0.161 | 12 | 4 | 0.333 | 4 |
GJC1_ENST00000590758 | GJC1 | P36383 | Gap junction gamma-1 protein | chr17 | GO:0048738 | Not Cancer Driver | No | 63 | 0.159 | 150 | 30 | 0.2 | 0 |
HCN4 | HCN4 | Q9Y3Q4 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 | chr15 | GO:0048738 | Not Cancer Driver | No | 187 | 0.155 | 631 | 58 | 0.092 | 3 |
HEY1_ENST00000354724 | HEY1 | Q9Y5J3 | Hairy/enhancer-of-split related with YRPW motif protein 1 | chr8 | GO:0048738 | 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:0048738 | Not Cancer Driver | No | 64 | 0.19 | 179 | 26 | 0.145 | 0 |
HOPX_ENST00000317745 | HOPX | Q9BPY8 | Homeodomain-only protein | chr4 | GO:0048738 | Not Cancer Driver | No | 13 | 0.178 | 48 | 10 | 0.208 | 0 |
ID2_ENST00000396290 | ID2 | Q02363 | DNA-binding protein inhibitor ID-2 | chr2 | GO:0048738 | Not Cancer Driver | No | 14 | 0.104 | 52 | 7 | 0.135 | 0 |
IRX3 | IRX3 | P78415 | Iroquois-class homeodomain protein IRX-3 | chr16 | GO:0048738 | Not Cancer Driver | No | 38 | 0.076 | 407 | 32 | 0.079 | 0 |
MAML1 | MAML1 | Q92585 | Mastermind-like protein 1 | chr5 | GO:0048738 | Not Cancer Driver | No | 102 | 0.1 | 1009 | 102 | 0.101 | 0 |
MSC | MSC | O60682 | Musculin | chr8 | GO:0048738 | Not Cancer Driver | No | 47 | 0.228 | 173 | 41 | 0.237 | 0 |
MSX1 | MSX1 | P28360 | Homeobox protein MSX-1 | chr4 | GO:0048738 | Not Cancer Driver | No | 39 | 0.129 | 197 | 16 | 0.081 | 7 |
MSX2 | MSX2 | P35548 | Homeobox protein MSX-2 | chr5 | GO:0048738 | Not Cancer Driver | No | 27 | 0.101 | 168 | 14 | 0.083 | 4 |
MYL7 | MYL7 | Q01449 | Myosin regulatory light chain 2, atrial isoform | chr7 | GO:0048738 | Not Cancer Driver | No | 21 | 0.12 | 28 | 3 | 0.107 | 0 |
NDUFV2 | NDUFV2 | P19404 | NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial | chr18 | GO:0048738 | Not Cancer Driver | No | 40 | 0.161 | 69 | 15 | 0.217 | 0 |
NKX2-5 | NKX2-5 | P52952 | Homeobox protein Nkx-2.5 | chr5 | GO:0048738 | Not Cancer Driver | No | 48 | 0.148 | 181 | 22 | 0.122 | 55 |
NOTCH1 | NOTCH1 | P46531 | Neurogenic locus notch homolog protein 1 | chr9 | GO:0048738 | Census, Compendium | Yes | 363 | 0.142 | 686 | 87 | 0.127 | 3 |
NOTCH2 | NOTCH2 | Q04721 | Neurogenic locus notch homolog protein 2 | chr1 | GO:0048738 | Census, Compendium | Yes | 282 | 0.114 | 630 | 77 | 0.122 | 1 |
NPPA | NPPA | P01160 | Natriuretic peptides A | chr1 | GO:0048738 | Not Cancer Driver | No | 32 | 0.212 | 71 | 14 | 0.197 | 1 |
NPPB | NPPB | P16860 | Natriuretic peptides B | chr1 | GO:0048738 | Not Cancer Driver | No | 31 | 0.231 | 104 | 28 | 0.269 | 0 |
NPRL3_ENST00000611875 | NPRL3 | Q12980 | GATOR complex protein NPRL3 | chr16 | GO:0048738 | Not Cancer Driver | No | 45 | 0.079 | 158 | 22 | 0.139 | 0 |
NRG1_ENST00000405005 | NRG1 | Q02297 | Pro-neuregulin-1, membrane-bound isoform | chr8 | GO:0048738 | Census, Compendium | Yes | 159 | 0.248 | 528 | 132 | 0.25 | 0 |
PLN | PLN | P26678 | Cardiac phospholamban | chr6 | GO:0048738 | Not Cancer Driver | No | 10 | 0.192 | 0 | 0 | 0.0 | 3 |
PPP1R13L_ENST00000360957 | PPP1R13L | Q8WUF5 | RelA-associated inhibitor | chr19 | GO:0048738 | Not Cancer Driver | No | 117 | 0.141 | 657 | 90 | 0.137 | 0 |
PRMT1 | PRMT1 | Q99873 | Protein arginine N-methyltransferase 1 | chr19 | GO:0048738 | Not Cancer Driver | No | 50 | 0.135 | 18 | 1 | 0.056 | 0 |
PTEN | PTEN | P60484 | Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN | chr10 | GO:0048738 | Census, Compendium | Yes | 505 | 1.253 | 76 | 4 | 0.053 | 41 |
RBP4 | RBP4 | P02753 | Retinol-binding protein 4 | chr10 | GO:0048738 | Not Cancer Driver | No | 30 | 0.149 | 8 | 1 | 0.125 | 4 |
SCN5A_ENST00000333535 | SCN5A | Q14524 | Sodium channel protein type 5 subunit alpha | chr3 | GO:0048738 | Not Cancer Driver | No | 491 | 0.244 | 550 | 144 | 0.262 | 190 |
SGCD_ENST00000435422 | SGCD | Q92629 | Delta-sarcoglycan | chr5 | GO:0048738 | Not Cancer Driver | No | 67 | 0.232 | 74 | 20 | 0.27 | 2 |
SGCG | SGCG | Q13326 | Gamma-sarcoglycan | chr13 | GO:0048738 | Not Cancer Driver | No | 64 | 0.22 | 60 | 12 | 0.2 | 4 |
SGCZ | SGCZ | Q96LD1 | Zeta-sarcoglycan | chr8 | GO:0048738 | Not Cancer Driver | No | 131 | 0.438 | 58 | 15 | 0.259 | 0 |
SHOX2_ENST00000441443 | SHOX2 | O60902 | Short stature homeobox protein 2 | chr3 | GO:0048738 | Not Cancer Driver | No | 67 | 0.202 | 200 | 40 | 0.2 | 0 |
SMAD1 | SMAD1 | Q15797 | Mothers against decapentaplegic homolog 1 | chr4 | GO:0048738 | Not Cancer Driver | No | 54 | 0.116 | 161 | 22 | 0.137 | 0 |
SMAD4_ENST00000398417 | SMAD4 | Q13485 | Mothers against decapentaplegic homolog 4 | chr18 | GO:0048738 | Census, Compendium | Yes | 198 | 0.359 | 195 | 17 | 0.087 | 8 |
SMAD5_ENST00000509297 | SMAD5 | Q99717 | Mothers against decapentaplegic homolog 5 | chr5 | GO:0048738 | Not Cancer Driver | No | 44 | 0.095 | 172 | 11 | 0.064 | 0 |
TAZ_ENST00000612460 | TAFAZZIN | Q16635 | Tafazzin | chrX | GO:0048738 | Not Cancer Driver | No | 33 | 0.126 | 12 | 0 | 0.0 | 10 |
TBX18 | TBX18 | O95935 | T-box transcription factor TBX18 | chr6 | GO:0048738 | Not Cancer Driver | No | 156 | 0.257 | 356 | 94 | 0.264 | 2 |
TBX2 | TBX2 | Q13207 | T-box transcription factor TBX2 | chr17 | GO:0048738 | Not Cancer Driver | No | 74 | 0.104 | 401 | 36 | 0.09 | 1 |
TBX5 | TBX5 | Q99593 | T-box transcription factor TBX5 | chr12 | GO:0048738 | Not Cancer Driver | No | 155 | 0.299 | 351 | 113 | 0.322 | 5 |
TREX1_ENST00000625293 | TREX1 | Q9NSU2 | Three-prime repair exonuclease 1 | chr3 | GO:0048738 | Not Cancer Driver | No | 26 | 0.083 | 98 | 10 | 0.102 | 18 |
ZMPSTE24 | ZMPSTE24 | O75844 | CAAX prenyl protease 1 homolog | chr1 | GO:0048738 | Not Cancer Driver | No | 67 | 0.141 | 23 | 0 | 0.0 | 3 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|