P48380
SS
Gene name |
RFX3 |
Protein name |
Transcription factor RFX3 |
Names |
Regulatory factor X 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5991 |
EC number |
|
Protein Class |
|
Descriptions
RFX1 is a regulatory factor essential for MHC class II genes expression, and binds to the X boxes of MHC class II genes. This protein possesses intrinsically disordered regions (IDRs) with large negative charge, some of which involve a consecutive sequence of aspartate (D) or glutamate (E) residues, known as D/E repeats. These D/E repeats can cause autoinhibition through intramolecular electrostatic interaction with HMG boxes and modulate binding to DNA. This autoinhibited state can transition into the uninhibited complex with DNA through an electrostatically driven induced-fit process, which accelerates the target DNA search kinetics in the presence of non-functional high-affinity ligands ('decoys').
Autoinhibitory domains (AIDs)
Target domain |
113-272 (DNA binding domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
No accessory elements
References
- Wang X et al. (2023) "Negatively charged, intrinsically disordered regions can accelerate target search by DNA-binding proteins", Nucleic acids research, 51, 4701-4712
- Katan-Khaykovich Y et al. (2001) "Nuclear import and DNA-binding activity of RFX1. Evidence for an autoinhibitory mechanism", European journal of biochemistry, 268, 3108-16
- Stott K et al. (2010) "Tail-mediated collapse of HMGB1 is dynamic and occurs via differential binding of the acidic tail to the A and B domains", Journal of molecular biology, 403, 706-22
- Watson M et al. (2007) "Mapping intramolecular interactions between domains in HMGB1 using a tail-truncation approach", Journal of molecular biology, 374, 1286-97
- Stott K et al. (2014) "Structural insights into the mechanism of negative regulation of single-box high mobility group proteins by the acidic tail domain", The Journal of biological chemistry, 289, 29817-26
- Ueshima S et al. (2017) "Internal Associations of the Acidic Region of Upstream Binding Factor Control Its Nucleolar Localization", Molecular and cellular biology, 37,
- Wang X et al. (2021) "Dynamic Autoinhibition of the HMGB1 Protein via Electrostatic Fuzzy Interactions of Intrinsically Disordered Regions", Journal of molecular biology, 433, 167122
- Gajiwala KS et al. (2000) "Structure of the winged-helix protein hRFX1 reveals a new mode of DNA binding", Nature, 403, 916-21
Autoinhibited structure
Activated structure
1 structures for P48380
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P48380-F1 | Predicted | AlphaFoldDB |
560 variants for P48380
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs2131583484 RCV002277688 |
255 | R>C | Neurodevelopmental disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001375031 rs2131116061 |
570 | A>missing | Neurodevelopmental disorder [ClinVar] | Yes |
ClinVar dbSNP |
| TCGA novel | 1 | M>? | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1195115769 | 2 | Q>E | No |
TOPMed gnomAD |
|
| rs1840774645 | 3 | T>I | No | Ensembl | |
| rs748764342 | 5 | E>K | No |
ExAC gnomAD |
|
| rs2131933870 | 6 | T>N | No | Ensembl | |
| rs779573831 | 6 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs769425702 | 7 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs769425702 | 7 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs746288499 | 8 | S>L | No |
ExAC gnomAD |
|
| rs1840773264 | 8 | S>T | No | Ensembl | |
| rs1158210287 | 9 | D>G | No | TOPMed | |
| rs1168039333 | 9 | D>N | No | TOPMed | |
| rs935166317 | 10 | T>I | No | TOPMed | |
| rs1840771216 | 11 | G>A | No |
TOPMed gnomAD |
|
| rs1840771216 | 11 | G>D | No |
TOPMed gnomAD |
|
| rs1840771522 | 11 | G>R | No | TOPMed | |
| rs1840770775 | 12 | S>L | No | Ensembl | |
| rs758479809 | 13 | T>A | No |
ExAC gnomAD |
|
| rs1443475228 | 14 | V>G | No | Ensembl | |
| rs752764062 | 15 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs755223224 | 16 | L>V | No |
ExAC gnomAD |
|
| rs1840767890 | 17 | Q>R | No | Ensembl | |
| rs1840767457 | 20 | V>L | No | Ensembl | |
| rs761648659 | 22 | S>N | No |
ExAC gnomAD |
|
| rs764051986 | 22 | S>R | No |
ExAC gnomAD |
|
| rs1228391861 | 23 | Q>E | No |
TOPMed gnomAD |
|
| rs1228391861 | 23 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs762379797 | 24 | A>T | No |
ExAC gnomAD |
|
| rs775064894 | 24 | A>V | No |
ExAC gnomAD |
|
| rs769376770 | 26 | V>A | No |
ExAC gnomAD |
|
|
rs745514707 COSM1663903 COSM1663902 |
28 | T>M | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs776220624 | 29 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs1587495288 | 30 | V>G | No | Ensembl | |
| rs1407191896 | 30 | V>M | No | gnomAD | |
| TCGA novel | 34 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1451726220 | 34 | V>I | No |
TOPMed gnomAD |
|
| rs747309396 | 35 | P>R | No |
ExAC gnomAD |
|
| rs1208007432 | 35 | P>T | No |
TOPMed gnomAD |
|
| rs1272400340 | 36 | V>E | No |
TOPMed gnomAD |
|
| rs1840761800 | 38 | Q>E | No |
TOPMed gnomAD |
|
| rs1840761557 | 38 | Q>R | No | Ensembl | |
| rs1834481942 | 41 | Q>P | No | TOPMed | |
| rs960343788 | 42 | Q>H | No | TOPMed | |
| rs987782548 | 42 | Q>R | No | gnomAD | |
| rs575216391 | 44 | Q>H | No |
TOPMed gnomAD |
|
| rs770515075 | 44 | Q>P | No |
ExAC gnomAD |
|
| rs372587893 | 45 | T>P | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM5835731 COSM455850 COSM5213148 COSM455851 COSM5213147 |
46 | V>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM5197462 COSM5197461 COSM5197459 COSM5197460 COSM5835732 |
46 | V>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs773562999 | 47 | Q>R | No |
ExAC gnomAD |
|
| rs1404779404 | 51 | H>N | No | TOPMed | |
| rs1035212168 | 51 | H>Q | No | TOPMed | |
| rs1834478571 | 52 | V>A | No | TOPMed | |
|
COSM1489947 COSM5835730 COSM4813962 COSM4813963 COSM1489946 |
54 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs200958644 | 55 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs200958644 | 55 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs200958644 | 55 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1298565472 | 56 | Q>H | No | TOPMed | |
|
COSM4927008 COSM4927006 COSM4927009 COSM4927007 |
58 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1001954657 | 59 | Y>C | No | gnomAD | |
| rs1340526482 | 60 | V>A | No | gnomAD | |
| rs1834475592 | 62 | G>E | No | gnomAD | |
| rs374523798 | 63 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs777692576 | 64 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
TCGA novel rs758081910 |
65 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC TOPMed gnomAD |
| rs758081910 | 65 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs147727764 | 65 | T>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs765019488 | 71 | A>S | No |
ExAC gnomAD |
|
| rs2131160753 | 71 | A>V | No | Ensembl | |
| rs749244562 | 72 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs1834472991 | 72 | I>T | No | Ensembl | |
| rs759100951 | 72 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1448077681 | 73 | R>* | No | gnomAD | |
| rs1290532258 | 73 | R>P | No | TOPMed | |
| rs1290532258 | 73 | R>Q | No | TOPMed | |
| rs1832465666 | 74 | T>A | No | TOPMed | |
| rs2130885764 | 75 | T>A | No | Ensembl | |
| rs779926568 | 76 | T>A | No |
ExAC gnomAD |
|
| rs1156378337 | 76 | T>M | No | gnomAD | |
| rs1832464353 | 81 | E>D | No |
TOPMed gnomAD |
|
| rs1160758960 | 82 | T>A | No | gnomAD | |
| TCGA novel | 83 | Q>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370801268 COSM72415 |
84 | M>I | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1569289 COSM1569290 rs1832463838 |
84 | M>V | large_intestine [Cosmic] | No |
cosmic curated TOPMed |
| rs1184471579 | 86 | S>G | No | gnomAD | |
| rs1484380815 | 86 | S>T | No | gnomAD | |
| rs1832462249 | 90 | G>A | No | gnomAD | |
| rs756853682 | 91 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs1292815618 | 91 | G>R | No | Ensembl | |
| rs1832460933 | 95 | D>V | No | Ensembl | |
| rs1241975229 | 96 | T>A | No | gnomAD | |
| TCGA novel | 97 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1235378017 | 99 | S>N | No | TOPMed | |
|
COSM1243565 COSM1243564 rs1832459343 |
99 | S>R | oesophagus [Cosmic] | No |
cosmic curated Ensembl |
| rs369707821 | 101 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs369707821 | 101 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1460527048 | 101 | A>V | No | gnomAD | |
| rs1832457702 | 103 | V>M | No | gnomAD | |
| rs771227145 | 104 | T>A | No |
ExAC gnomAD |
|
| rs1361670631 | 105 | T>A | No | gnomAD | |
| rs1300615290 | 105 | T>N | No | gnomAD | |
| rs1016181586 | 106 | V>L | No |
TOPMed gnomAD |
|
| rs1016181586 | 106 | V>M | No |
TOPMed gnomAD |
|
| rs756574114 | 107 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs1185934497 | 110 | H>N | No |
TOPMed gnomAD |
|
| rs1185934497 | 110 | H>Y | No |
TOPMed gnomAD |
|
| rs1478196215 | 111 | S>C | No | gnomAD | |
| rs756029065 | 112 | M>L | No |
ExAC gnomAD |
|
| rs1218666184 | 114 | G>C | No |
TOPMed gnomAD |
|
| rs951402245 | 114 | G>V | No |
TOPMed gnomAD |
|
| rs745447929 | 115 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs1832452928 | 115 | T>I | No | TOPMed | |
| rs1832451540 | 118 | I>F | No |
TOPMed gnomAD |
|
| rs1323082713 | 120 | M>L | No |
TOPMed gnomAD |
|
| rs1832451001 | 121 | G>V | No | Ensembl | |
|
COSM3906889 rs1213429746 COSM3906890 COSM3906892 COSM3906891 |
122 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs753099868 | 123 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs753099868 | 123 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs1832448583 | 125 | G>A | No | TOPMed | |
| rs1832448853 | 125 | G>R | No | Ensembl | |
| rs760090646 | 127 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs760090646 | 127 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs1832446705 | 128 | I>M | No | Ensembl | |
| rs1459772939 | 128 | I>S | No | gnomAD | |
| rs1416805730 | 129 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1416805730 | 129 | S>T | No | TOPMed | |
| rs1352919756 | 130 | S>I | No |
TOPMed gnomAD |
|
| rs766390583 | 134 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs1197434065 | 134 | T>N | No |
TOPMed gnomAD |
|
| rs1197434065 | 134 | T>S | No |
TOPMed gnomAD |
|
| rs1832443760 | 135 | Y>D | No | Ensembl | |
| rs1832442927 | 137 | I>V | No |
TOPMed gnomAD |
|
| rs894088741 | 138 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs772223643 | 138 | G>S | No |
ExAC gnomAD |
|
| rs1233070068 | 140 | S>A | No | gnomAD | |
| rs140036718 | 141 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1832440092 | 142 | E>Q | No | TOPMed | |
| rs1259407515 | 145 | G>C | No |
TOPMed gnomAD |
|
|
COSM3779952 COSM3779953 rs1053061916 COSM3779951 COSM3779954 |
145 | G>D | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1259407515 | 145 | G>R | No |
TOPMed gnomAD |
|
| rs1832439177 | 146 | H>P | No | Ensembl | |
| rs781147027 | 146 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs746473700 | 148 | V>G | No |
ExAC TOPMed gnomAD |
|
| rs770354173 | 148 | V>L | No |
ExAC gnomAD |
|
| rs1832437880 | 150 | H>L | No | TOPMed | |
| rs36068943 | 151 | T>A | No |
TOPMed gnomAD |
|
| rs36068943 | 151 | T>P | No |
TOPMed gnomAD |
|
| rs777630923 | 151 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs1298015760 | 152 | T>S | No |
TOPMed gnomAD |
|
| rs1174211651 | 153 | R>G | No |
TOPMed gnomAD |
|
| rs1466326678 | 153 | R>Q | No | gnomAD | |
|
COSM1462060 COSM4948337 COSM4948336 rs1174211651 COSM1462059 |
153 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1174287421 | 154 | A>S | No |
TOPMed gnomAD |
|
| rs1174287421 | 154 | A>T | No |
TOPMed gnomAD |
|
|
COSM3656919 COSM3656917 COSM3656918 COSM3656916 rs1469370725 |
154 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs753153081 | 155 | S>F | No |
ExAC gnomAD |
|
| rs779400390 | 157 | A>E | No |
ExAC gnomAD |
|
| rs779400390 | 157 | A>V | No |
ExAC gnomAD |
|
| rs754332097 | 158 | T>S | No |
ExAC gnomAD |
|
| rs990476630 | 161 | M>T | No | Ensembl | |
| rs1457430670 | 162 | A>V | No |
TOPMed gnomAD |
|
| rs774158092 | 163 | I>M | No |
ExAC gnomAD |
|
| rs1170871959 | 163 | I>V | No |
TOPMed gnomAD |
|
| rs1828669088 | 164 | E>* | No | Ensembl | |
| rs1278057603 | 165 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
COSM1108281 COSM1108282 |
167 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs371361843 | 169 | S>C | No |
ESP ExAC gnomAD |
|
| rs781382810 | 169 | S>T | No | gnomAD | |
| rs139724710 | 170 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs1828666437 | 171 | G>S | No | Ensembl | |
| rs1356899030 | 172 | L>V | No |
TOPMed gnomAD |
|
| rs1828665208 | 174 | T>S | No |
TOPMed gnomAD |
|
|
rs757346391 COSM72414 |
178 | S>C | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3996515 COSM3996516 |
179 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1015981787 | 181 | N>S | No | Ensembl | |
| rs1415531387 | 182 | S>N | No | gnomAD | |
| rs201200685 | 188 | L>V | No |
ExAC gnomAD |
|
| rs769426857 | 189 | D>G | No |
ExAC gnomAD |
|
| rs759964710 | 190 | N>S | No | ExAC | |
| rs776953605 | 192 | E>* | No | ExAC | |
| rs771477573 | 193 | T>I | No |
ExAC gnomAD |
|
|
COSM455835 COSM455836 |
194 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1586913273 | 197 | V>G | No | Ensembl | |
| rs747574969 | 203 | T>S | No |
ExAC gnomAD |
|
| rs1165785493 | 207 | H>L | No | gnomAD | |
| rs1586913170 | 208 | Y>S | No | Ensembl | |
|
COSM3656893 COSM3656892 |
209 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 210 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1827598344 | 210 | R>Q | No | Ensembl | |
| rs2060624942 | 213 | Q>E | No | TOPMed | |
| rs1326023761 | 214 | E>D | No |
TOPMed gnomAD |
|
| rs945211690 | 214 | E>K | No | TOPMed | |
| rs1368406686 | 216 | K>R | No |
TOPMed gnomAD |
|
| rs141380404 | 217 | L>V | No |
ESP gnomAD |
|
| TCGA novel | 221 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3906860 COSM3906859 |
226 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 228 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1108273 COSM1108274 |
233 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1221820878 | 234 | M>L | No |
TOPMed gnomAD |
|
| rs1221820878 | 234 | M>V | No |
TOPMed gnomAD |
|
|
COSM3906857 COSM3906858 rs757065522 |
237 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
COSM5919745 COSM5919744 |
237 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 239 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 245 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1309054211 | 254 | I>L | No | gnomAD | |
| TCGA novel | 255 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1262687069 | 256 | V>I | No | TOPMed | |
| rs1379483116 | 259 | D>G | No | gnomAD | |
| rs939155001 | 264 | R>C | No |
TOPMed gnomAD |
|
| rs749312581 | 264 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1486902408 | 267 | E>G | No |
TOPMed gnomAD |
|
| rs146022525 | 269 | M>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs139980140 | 269 | M>R | No |
ESP ExAC |
|
| rs139980140 | 269 | M>T | No |
ESP ExAC |
|
| rs1358363981 | 269 | M>V | No | gnomAD | |
| rs1336800399 | 270 | Q>P | No |
TOPMed gnomAD |
|
| rs997639397 | 272 | M>V | No | Ensembl | |
| rs758163967 | 273 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1419148840 | 273 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1422750354 | 278 | P>S | No |
TOPMed gnomAD |
|
| rs1422750354 | 278 | P>T | No |
TOPMed gnomAD |
|
| rs778758988 | 279 | M>T | No | ExAC | |
| rs1190665750 | 282 | K>Q | No | gnomAD | |
| rs1826884620 | 283 | Q>H | No | TOPMed | |
| rs1781458673 | 283 | Q>L | No | TOPMed | |
| rs746100527 | 286 | K>N | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 286 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1265763124 | 287 | P>A | No | gnomAD | |
| rs1825378132 | 288 | M>I | No | Ensembl | |
| rs776877329 | 288 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs1825377105 | 290 | K>T | No | Ensembl | |
| rs1275123428 | 291 | V>A | No | gnomAD | |
| rs1372980455 | 292 | D>G | No | TOPMed | |
| rs771772415 | 294 | V>F | No |
ExAC gnomAD |
|
| rs1277516121 | 296 | D>H | No |
TOPMed gnomAD |
|
| rs1277516121 | 296 | D>N | No |
TOPMed gnomAD |
|
| rs778881792 | 297 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs941969562 | 302 | G>S | No |
TOPMed gnomAD |
|
| rs1166392643 | 304 | Q>H | No | gnomAD | |
| rs1391006847 | 304 | Q>R | No | gnomAD | |
| rs1463624118 | 305 | T>I | No |
TOPMed gnomAD |
|
| rs1463624118 | 305 | T>K | No |
TOPMed gnomAD |
|
| rs1423480748 | 306 | G>A | No | gnomAD | |
| TCGA novel | 306 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs909316033 COSM462400 COSM462401 |
308 | S>C | cervix [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs754902129 | 309 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs1586847668 | 309 | V>I | No | Ensembl | |
|
rs1376273892 COSM462402 COSM462403 |
312 | T>I | cervix [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1376273892 | 312 | T>S | No |
TOPMed gnomAD |
|
|
rs758554896 RCV001752505 |
313 | V>missing | No |
ClinVar dbSNP |
|
| rs1825367747 | 314 | I>V | No | TOPMed | |
| rs1825367106 | 315 | A>D | No | TOPMed | |
| rs1825367424 | 315 | A>S | No | TOPMed | |
| rs1352069008 | 316 | Q>H | No | gnomAD | |
|
COSM1314757 COSM1314758 |
317 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs779405805 | 318 | Q>H | No |
ExAC gnomAD |
|
| rs748832986 | 318 | Q>R | No |
ExAC gnomAD |
|
|
COSM1223603 rs199765108 COSM1223602 |
319 | H>Q | large_intestine [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs1825363992 | 320 | H>Y | No | TOPMed | |
| rs1408861650 | 323 | F>V | No | gnomAD | |
| TCGA novel | 324 | L>F | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs780764199 | 325 | D>G | No |
ExAC gnomAD |
|
| rs1825101176 | 326 | A>G | No | TOPMed | |
| rs752020974 | 329 | A>V | No |
ExAC gnomAD |
|
| rs1825099531 | 333 | F>I | No | Ensembl | |
| rs1048210761 | 334 | G>R | No | Ensembl | |
| rs2131396701 | 335 | E>* | No | Ensembl | |
| rs540097073 | 338 | I>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs753950808 | 343 | D>G | No |
ExAC gnomAD |
|
| rs1471867485 | 344 | G>A | No | gnomAD | |
| rs1471867485 | 344 | G>D | No | gnomAD | |
|
COSM3656885 COSM3656884 |
345 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3848339 COSM3848340 |
348 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs979380385 | 352 | S>T | No | TOPMed | |
|
COSM4848260 COSM4848259 |
354 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1825093817 | 359 | E>K | No | gnomAD | |
| rs1825093817 | 359 | E>Q | No | gnomAD | |
| rs780468867 | 367 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs76135832 | 369 | V>L | No | Ensembl | |
| TCGA novel | 371 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs767792723 | 373 | F>L | No |
ExAC gnomAD |
|
| rs1824365987 | 374 | S>G | No | TOPMed | |
|
COSM4413987 COSM4413988 |
374 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs895130359 | 375 | L>R | No | Ensembl | |
|
COSM294754 COSM294753 |
379 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 386 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1824364289 | 387 | S>C | No | Ensembl | |
| rs1253918896 | 389 | S>C | No |
TOPMed gnomAD |
|
| rs765114092 | 391 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs1304486916 | 392 | T>I | No |
TOPMed gnomAD |
|
| rs1304486916 | 392 | T>N | No |
TOPMed gnomAD |
|
| rs2131340514 | 393 | D>G | No | Ensembl | |
| rs1271044106 | 394 | G>D | No | Ensembl | |
| rs758113818 | 395 | T>A | No | Ensembl | |
| rs377693811 | 395 | T>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs377693811 | 395 | T>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1824361489 | 396 | T>A | No | Ensembl | |
|
RCV000971144 rs41314211 |
396 | T>I | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1461361288 | 397 | I>N | No | gnomAD | |
| rs1313737704 | 397 | I>V | No |
TOPMed gnomAD |
|
| TCGA novel | 398 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1319610 rs1824359100 COSM1319609 |
399 | E>K | Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
|
COSM5004782 rs143518057 COSM5004783 |
400 | S>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
COSM6049039 COSM6049040 rs537638899 |
400 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs771902440 | 400 | S>P | No |
ExAC gnomAD |
|
| rs537638899 | 400 | S>W | No |
TOPMed gnomAD |
|
| rs1824357530 | 401 | S>R | No | TOPMed | |
| rs1310738027 | 403 | L>M | No |
TOPMed gnomAD |
|
| rs1824281030 | 404 | S>N | No | TOPMed | |
|
COSM753625 COSM753624 |
404 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs775798813 | 406 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1364093709 | 408 | S>I | No | TOPMed | |
| rs2131333655 | 409 | R>* | No | Ensembl | |
| rs1313206185 | 409 | R>Q | No |
TOPMed gnomAD |
|
| rs781614960 | 417 | T>S | No |
ExAC gnomAD |
|
| rs1452069211 | 417 | T>S | No | TOPMed | |
| rs952130687 | 420 | K>Q | No | Ensembl | |
| rs1026382243 | 421 | H>Q | No | TOPMed | |
| rs778128234 | 435 | M>T | No |
ExAC gnomAD |
|
| rs758521951 | 437 | Q>E | No |
ExAC gnomAD |
|
| rs371178536 | 438 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs993542572 | 438 | A>V | No | TOPMed | |
|
COSM1108260 COSM1108261 |
441 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1261862160 COSM1108258 COSM1108259 |
447 | V>I | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1824272874 | 448 | L>F | No |
TOPMed gnomAD |
|
| TCGA novel | 448 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs766398506 | 451 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs752361758 | 454 | A>V | No |
ExAC gnomAD |
|
|
COSM5538134 COSM5538133 |
460 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1108257 COSM1108256 |
460 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs141835714 | 465 | S>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1176864589 | 467 | E>* | No | gnomAD | |
| rs1002471240 | 468 | G>S | No | TOPMed | |
| rs1272241529 | 469 | W>G | No | gnomAD | |
|
COSM1461992 COSM1461991 rs766962228 |
472 | N>S | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs1354100452 | 476 | N>S | No | TOPMed | |
| rs1277995079 | 478 | P>T | No | gnomAD | |
| rs1823614923 | 480 | R>G | No | TOPMed | |
| rs1233100079 | 480 | R>K | No | gnomAD | |
| rs761110657 | 483 | Q>E | No |
ExAC gnomAD |
|
| rs1304914763 | 483 | Q>L | No | gnomAD | |
| rs1823129262 | 486 | V>I | No | Ensembl | |
| rs1823128939 | 487 | A>G | No | gnomAD | |
| rs1357744033 | 488 | A>T | No |
TOPMed gnomAD |
|
| rs1823127475 | 489 | V>I | No | Ensembl | |
| rs1823127057 | 490 | S>C | No |
TOPMed gnomAD |
|
| rs1823127057 | 490 | S>G | No |
TOPMed gnomAD |
|
| rs1823126776 | 491 | A>V | No | TOPMed | |
|
COSM3848327 COSM3848326 |
497 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1331583 COSM1331584 |
498 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM455825 COSM455826 |
500 | T>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV002273395 COSM1674369 COSM1674368 rs1459967938 |
501 | S>L | large_intestine [Cosmic] | No |
cosmic curated ClinVar dbSNP gnomAD |
| rs1459967938 | 501 | S>W | No | gnomAD | |
|
COSM3779942 COSM3779943 rs865829359 |
504 | H>Y | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
|
COSM753651 COSM753652 |
508 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1823122973 | 508 | A>T | No | gnomAD | |
| rs1823122581 | 509 | A>T | No | TOPMed | |
| rs1823122083 | 510 | R>C | No | TOPMed | |
|
COSM6115528 COSM6115527 |
510 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 510 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1563821906 | 516 | T>A | No | TOPMed | |
| rs1563821906 | 516 | T>S | No | TOPMed | |
| rs1823121016 | 517 | S>F | No | Ensembl | |
| rs1196950939 | 519 | I>L | No |
TOPMed gnomAD |
|
|
COSM1108205 COSM1108206 |
520 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs111486709 | 523 | L>P | No | Ensembl | |
| rs2131219352 | 524 | S>N | No | Ensembl | |
|
COSM178666 COSM178667 rs2131219218 |
528 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
|
COSM1223606 rs946644871 COSM1223607 |
530 | D>N | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs1388836508 | 531 | F>S | No | TOPMed | |
| rs1823115572 | 532 | A>G | No | Ensembl | |
| rs771808719 | 532 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs771808719 | 532 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1823115572 | 532 | A>V | No | Ensembl | |
| TCGA novel | 536 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs765427659 | 538 | A>T | No |
ExAC gnomAD |
|
| rs868537198 | 539 | S>C | No | gnomAD | |
| rs868537198 | 539 | S>F | No | gnomAD | |
| rs1441459259 | 540 | W>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1822245567 | 541 | V>M | No | Ensembl | |
| rs1380772198 | 545 | D>E | No |
TOPMed gnomAD |
|
| rs778198156 | 546 | D>Y | No | Ensembl | |
| rs767308397 | 547 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs767308397 | 547 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs1822243015 | 548 | M>I | No | TOPMed | |
| rs1054673131 | 548 | M>V | No |
TOPMed gnomAD |
|
| rs1822242719 | 551 | R>I | No | TOPMed | |
| rs761542595 | 552 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs1434363380 | 555 | D>E | No | gnomAD | |
| rs768630320 | 555 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs748786369 | 557 | K>R | No |
ExAC gnomAD |
|
| rs775040355 | 558 | M>V | No |
ExAC gnomAD |
|
| rs377296978 | 563 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs1367059293 | 564 | S>I | No | gnomAD | |
| rs1822239034 | 566 | L>P | No | Ensembl | |
| TCGA novel | 568 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2131116028 | 571 | A>P | No | Ensembl | |
| rs1347365180 | 571 | A>V | No | gnomAD | |
|
COSM1314753 COSM4812410 COSM1314754 |
572 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM6183359 COSM6183360 COSM6183358 |
572 | W>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs747374455 | 573 | L>I | No |
ExAC gnomAD |
|
| rs1822237288 | 574 | D>N | No | TOPMed | |
| rs1822237288 | 574 | D>Y | No | TOPMed | |
| rs2131115706 | 577 | M>K | No | Ensembl | |
| rs1306466168 | 577 | M>V | No |
TOPMed gnomAD |
|
| rs1329271242 | 578 | M>R | No | TOPMed | |
| rs934783563 | 579 | Q>E | No |
TOPMed gnomAD |
|
| rs374194094 | 582 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs907265673 | 583 | P>R | No | Ensembl | |
| rs1822234306 | 583 | P>S | No | Ensembl | |
| rs1412730844 | 584 | Y>F | No | gnomAD | |
|
COSM6115533 COSM6115535 COSM6115534 |
585 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs754077544 | 588 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs754077544 | 588 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs371245427 | 591 | P>H | No |
ESP TOPMed |
|
| rs371245427 | 591 | P>R | No |
ESP TOPMed |
|
| rs1467310309 | 591 | P>T | No | gnomAD | |
|
rs766578680 COSM323046 COSM323045 |
593 | A>V | lung [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs762968227 | 604 | Y>H | No |
ExAC gnomAD |
|
| rs763979703 | 607 | M>V | No |
ExAC gnomAD |
|
| rs1820929466 | 610 | R>Q | No | Ensembl | |
| rs1481334707 | 610 | R>W | No |
TOPMed gnomAD |
|
| rs1563797574 | 611 | D>E | No | gnomAD | |
| rs2130960718 | 611 | D>V | No | Ensembl | |
|
COSM3656817 COSM3656816 COSM3656815 |
617 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1820927625 | 619 | S>G | No | gnomAD | |
| rs1294373274 | 627 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs969921241 | 627 | R>H | No | gnomAD | |
| rs1563797409 | 629 | L>V | No | Ensembl | |
|
COSM4971241 COSM136700 COSM4971242 rs1460759054 |
632 | E>K | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs1212216051 | 633 | Y>F | No | gnomAD | |
| rs1820923153 | 634 | M>I | No | TOPMed | |
| rs1372916670 | 634 | M>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1820922547 | 638 | V>A | No |
TOPMed gnomAD |
|
| rs1820922867 | 638 | V>I | No | TOPMed | |
| rs1251149179 | 641 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1193103189 | 642 | V>L | No | gnomAD | |
|
COSM4872041 COSM1108170 COSM1108171 |
644 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2130959549 | 646 | T>A | No | Ensembl | |
| rs772675197 | 649 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs772675197 | 649 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs772675197 | 649 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs1290547760 | 649 | T>S | No | gnomAD | |
| rs1820920190 | 650 | P>A | No | TOPMed | |
| rs1016200720 | 651 | I>L | No |
TOPMed gnomAD |
|
| rs1394060253 | 651 | I>M | No | TOPMed | |
| rs1016200720 | 651 | I>V | No |
TOPMed gnomAD |
|
| rs1820919184 | 652 | A>T | No | TOPMed | |
| rs1820918925 | 652 | A>V | No | Ensembl | |
| rs748451113 | 654 | M>I | No |
ExAC gnomAD |
|
| rs376770899 | 654 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1488510399 | 655 | G>V | No | gnomAD | |
| rs866743241 | 658 | G>A | No | gnomAD | |
|
rs1818111360 COSM288908 |
658 | G>S | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
| rs866743241 | 658 | G>V | No | gnomAD | |
| rs769588827 | 659 | D>E | No |
ExAC gnomAD |
|
| rs780013042 | 659 | D>G | No |
ExAC gnomAD |
|
| rs1231477212 | 659 | D>N | No |
TOPMed gnomAD |
|
| rs1473278926 | 662 | A>V | No | gnomAD | |
| rs756774067 | 663 | V>A | No |
ExAC gnomAD |
|
| rs191847028 | 663 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs191847028 | 663 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1045788451 | 664 | S>F | No | Ensembl | |
| rs1219671940 | 665 | P>S | No |
TOPMed gnomAD |
|
| rs1818107848 | 668 | L>P | No | Ensembl | |
| rs1353121603 | 669 | D>E | No | TOPMed | |
| rs751064531 | 670 | K>Q | No |
ExAC gnomAD |
|
|
COSM178632 rs1817632211 |
671 | D>E | large_intestine [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1461836280 | 671 | D>N | No | TOPMed | |
| rs1183861759 | 673 | G>V | No | gnomAD | |
| rs200149009 | 675 | E>G | No | 1000Genomes | |
| rs1484924901 | 676 | V>L | No | gnomAD | |
| rs1267659242 | 677 | E>Q | No | gnomAD | |
| TCGA novel | 678 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1108079 | 678 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1044259906 | 678 | S>T | No | Ensembl | |
| rs1207955488 | 679 | E>K | No | gnomAD | |
| rs767713561 | 680 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs1329786532 | 680 | M>V | No | gnomAD | |
| rs761928837 | 681 | D>G | No |
ExAC gnomAD |
|
| TCGA novel | 681 | D>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs774497226 | 682 | E>Q | No | ExAC | |
| rs2130559075 | 683 | E>G | No | Ensembl | |
| rs778586900 | 684 | L>M | No | Ensembl | |
| rs778586900 | 684 | L>V | No | Ensembl | |
| rs1397477015 | 685 | D>G | No |
TOPMed gnomAD |
|
| rs1312961345 | 685 | D>N | No | gnomAD | |
| rs370742533 | 686 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs1479835958 | 686 | D>G | No | Ensembl | |
| rs759291664 | 686 | D>N | No |
ExAC gnomAD |
|
| rs759291664 | 686 | D>Y | No |
ExAC gnomAD |
|
| rs1563761846 | 687 | S>P | No | Ensembl | |
| TCGA novel | 688 | S>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1817626732 | 690 | P>L | No |
TOPMed gnomAD |
|
| TCGA novel | 695 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1163181055 | 695 | E>G | No | gnomAD | |
| rs1391502810 | 695 | E>K | No |
TOPMed gnomAD |
|
| rs1391502810 | 695 | E>Q | No |
TOPMed gnomAD |
|
| rs1817625919 | 696 | K>E | No | gnomAD | |
| rs770672447 | 699 | L>P | No |
ExAC gnomAD |
|
| rs931224520 | 700 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1817624437 | 701 | Q>K | No | TOPMed | |
| rs747687105 | 702 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs376315262 | 702 | A>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs376315262 | 702 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs747687105 | 702 | A>V | No |
ExAC TOPMed gnomAD |
|
|
rs1178454022 COSM3656804 |
704 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
| rs1189318751 | 705 | V>A | No | gnomAD | |
| rs1465258934 | 706 | G>C | No | gnomAD | |
| TCGA novel | 706 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs373971126 | 707 | C>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs373971126 | 707 | C>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs575024096 | 708 | M>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs537423142 | 708 | M>V | No |
1000Genomes ExAC gnomAD |
|
| rs1817622154 | 709 | Q>K | No | Ensembl | |
| rs1817621953 | 709 | Q>R | No | TOPMed | |
| rs1298503304 | 710 | P>L | No |
TOPMed gnomAD |
|
| rs1817621024 | 713 | E>K | No | TOPMed | |
| rs750983201 | 714 | T>I | No |
ExAC gnomAD |
|
| rs750983201 | 714 | T>N | No |
ExAC gnomAD |
|
| rs1563761643 | 714 | T>P | No | Ensembl | |
| rs750983201 | 714 | T>S | No |
ExAC gnomAD |
|
| rs768127201 | 715 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1817619396 | 715 | G>V | No | TOPMed | |
| rs751629721 | 716 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs1817618078 | 718 | P>Q | No | gnomAD | |
| COSM753669 | 718 | P>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1322124778 | 718 | P>S | No | gnomAD | |
| rs1391817870 | 720 | L>F | No | gnomAD | |
| rs1295664748 | 720 | L>R | No | gnomAD | |
| rs1391817870 | 720 | L>V | No | gnomAD | |
| rs1389815475 | 722 | N>S | No | gnomAD | |
| rs763258407 | 723 | P>L | No |
ExAC gnomAD |
|
| rs766173552 | 724 | I>T | No |
ExAC gnomAD |
|
| rs112892828 | 726 | S>G | No | Ensembl | |
| rs757220727 | 726 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs749241086 | 727 | E>D | No |
ExAC TOPMed |
|
| rs1267719538 | 727 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
rs1267719538 RCV002227647 |
727 | E>Q | No |
ClinVar dbSNP gnomAD |
|
| rs1817614288 | 728 | H>D | No | gnomAD | |
| rs907924803 | 729 | I>N | No | Ensembl | |
| rs747657807 | 729 | I>V | No |
ExAC gnomAD |
|
|
rs137899630 COSM3413586 |
730 | V>I | central_nervous_system [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| rs137899630 | 730 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1227432142 | 731 | T>A | No |
TOPMed gnomAD |
|
| rs1554624415 | 731 | T>R | No | Ensembl | |
| rs1273431301 | 735 | T>S | No | gnomAD | |
|
COSM1108077 rs374087462 |
737 | R>G | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1817611832 | 738 | Q>K | No | TOPMed | |
| rs756608044 | 738 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs1219714961 | 739 | C>S | No |
TOPMed gnomAD |
|
| rs746233622 | 740 | S>N | No |
ExAC TOPMed gnomAD |
|
|
rs996213173 COSM323044 |
741 | A>T | lung [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1817610602 | 742 | T>A | No | TOPMed | |
| rs751962102 | 745 | T>A | No |
ExAC gnomAD |
|
| rs1022315354 | 745 | T>I | No |
TOPMed gnomAD |
|
| rs1022315354 | 745 | T>S | No |
TOPMed gnomAD |
|
| rs1308848244 | 747 | T>A | No | gnomAD |
1 associated diseases with P48380
[MIM: 600802]: Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID)
A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. . Note=The disease is caused by variants affecting the gene represented in this entry.
14 regional properties for P48380
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | FERM domain | 24 - 356 | IPR000299 |
| domain | Protein kinase domain | 521 - 781 | IPR000719-1 |
| domain | Protein kinase domain | 822 - 1111 | IPR000719-2 |
| domain | SH2 domain | 373 - 477 | IPR000980 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 521 - 777 | IPR001245-1 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 823 - 1094 | IPR001245-2 |
| active_site | Tyrosine-protein kinase, active site | 945 - 957 | IPR008266 |
| binding_site | Protein kinase, ATP binding site | 828 - 855 | IPR017441 |
| domain | Band 4.1 domain | 20 - 254 | IPR019749 |
| domain | Tyrosine-protein kinase, catalytic domain | 521 - 777 | IPR020635-1 |
| domain | Tyrosine-protein kinase, catalytic domain | 822 - 1095 | IPR020635-2 |
| domain | JAK, FERM F2 lobe domain | 126 - 245 | IPR041046 |
| domain | FERM F1 lobe ubiquitin-like domain | 39 - 114 | IPR041155 |
| domain | JAK1-3/TYK2, pleckstrin homology-like domain | 287 - 357 | IPR041381 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| transcription regulator complex | A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| sequence-specific double-stranded DNA binding | Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. |
| transcription cis-regulatory region binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| cell maturation | The cellular developmental process, independent of morphogenetic (shape) change, that is required for a specific cell to attain its fully functional state. |
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| cilium-dependent cell motility | Cell motility due to the motion of one or more eukaryotic cilia. A eukaryotic cilium is a specialized organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| DNA-templated transcription | The synthesis of an RNA transcript from a DNA template. |
| endocrine pancreas development | The process whose specific outcome is the progression of the endocrine pancreas over time, from its formation to the mature structure. The endocrine pancreas is made up of islet cells that produce insulin, glucagon and somatostatin. |
| epithelial cilium movement involved in determination of left/right asymmetry | The movement of cilia of epithelial cells of the Left Right Organizer (LRO), also referred to as the node in mouse or the Kupffer's vesicle in zebrafish, resulting in the leftward fluid flow across the LRO and generation or transport of a signal which determines asymmetry in an organism's body plan with respect to the left and right halves. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| positive regulation of type B pancreatic cell development | Any process that activates or increases the frequency, rate or extent of pancreatic B cell development. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| regulation of insulin secretion | Any process that modulates the frequency, rate or extent of the regulated release of insulin. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| type B pancreatic cell maturation | A developmental process, independent of morphogenetic (shape) change, that is required for a type B pancreatic cell to attain its fully functional state. A type B pancreatic cell is a cell located towards center of the islets of Langerhans that secretes insulin. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P48378 | RFX2 | DNA-binding protein RFX2 | Homo sapiens (Human) | SS |
| P22670 | RFX1 | MHC class II regulatory factor RFX1 | Homo sapiens (Human) | EV |
| P48377 | Rfx1 | MHC class II regulatory factor RFX1 | Mus musculus (Mouse) | SS |
| P48381 | Rfx3 | Transcription factor RFX3 | Mus musculus (Mouse) | SS |
| Q0V9K5 | rfx3 | Transcription factor RFX3 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQTSETGSDT | GSTVTLQTSV | ASQAAVPTQV | VQQVPVQQQV | QQVQTVQQVQ | HVYPAQVQYV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EGSDTVYTNG | AIRTTTYPYT | ETQMYSQNTG | GNYFDTQGSS | AQVTTVVSSH | SMVGTGGIQM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GVTGGQLISS | SGGTYLIGNS | MENSGHSVTH | TTRASPATIE | MAIETLQKSD | GLSTHRSSLL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NSHLQWLLDN | YETAEGVSLP | RSTLYNHYLR | HCQEHKLDPV | NAASFGKLIR | SIFMGLRTRR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LGTRGNSKYH | YYGIRVKPDS | PLNRLQEDMQ | YMAMRQQPMQ | QKQRYKPMQK | VDGVADGFTG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SGQQTGTSVE | QTVIAQSQHH | QQFLDASRAL | PEFGEVEISS | LPDGTTFEDI | KSLQSLYREH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CEAILDVVVN | LQFSLIEKLW | QTFWRYSPST | PTDGTTITES | SNLSEIESRL | PKAKLITLCK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HESILKWMCN | CDHGMYQALV | EILIPDVLRP | IPSALTQAIR | NFAKSLEGWL | SNAMNNIPQR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MIQTKVAAVS | AFAQTLRRYT | SLNHLAQAAR | AVLQNTSQIN | QMLSDLNRVD | FANVQEQASW |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VCQCDDNMVQ | RLETDFKMTL | QQQSTLEQWA | AWLDNVMMQA | LKPYEGRPSF | PKAARQFLLK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| WSFYSSMVIR | DLTLRSAASF | GSFHLIRLLY | DEYMFYLVEH | RVAQATGETP | IAVMGEFGDL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NAVSPGNLDK | DEGSEVESEM | DEELDDSSEP | QAKREKTELS | QAFPVGCMQP | VLETGVQPSL |
| 730 | 740 | ||||
| LNPIHSEHIV | TSTQTIRQCS | ATGNTYTAV |