Q9UBJ2
Gene name |
ABCD2 |
Protein name |
ATP-binding cassette sub-family D member 2 |
Names |
Adrenoleukodystrophy-like 1, Adrenoleukodystrophy-related protein, hALDR |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:225 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9UBJ2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UBJ2-F1 | Predicted | AlphaFoldDB |
489 variants for Q9UBJ2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs747881435 CA6511824 |
2 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs773860547 CA6511823 |
3 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 4 | M>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6511822 rs768562728 |
4 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1566597431 CA384401528 |
6 | N>K | No |
ClinGen Ensembl |
|
|
rs779933199 CA6511820 |
7 | A>E | No |
ClinGen ExAC |
|
|
rs749041653 CA6511821 |
7 | A>S | No |
ClinGen ExAC |
|
|
CA384401495 rs1287307957 |
8 | A>V | No |
ClinGen gnomAD |
|
|
CA6511818 rs117275340 |
9 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6511815 rs745758365 |
11 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1160480470 CA384401402 |
13 | K>T | No |
ClinGen gnomAD |
|
|
rs1393123777 CA384401302 |
17 | S>P | No |
ClinGen gnomAD |
|
|
rs199684530 CA6511811 |
18 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA384401229 rs1472517602 |
20 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 22 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1184378818 CA384401186 |
23 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 24 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1485319494 CA384401171 |
24 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1485319494 CA384401172 |
24 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs756904045 CA6511810 |
25 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA235298185 rs756904045 |
25 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1015418351 CA235298175 |
25 | C>W | No |
ClinGen TOPMed |
|
|
rs1388070431 CA384401142 |
26 | L>M | No |
ClinGen TOPMed |
|
|
CA235298149 rs947503774 |
29 | A>V | No |
ClinGen TOPMed |
|
|
CA384401066 rs1294969865 |
32 | A>T | No |
ClinGen TOPMed |
|
|
CA384401024 rs1592003750 |
35 | T>P | No |
ClinGen Ensembl |
|
|
CA384401012 rs914521439 |
36 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs914521439 CA235298138 |
36 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA384400993 rs1382031972 |
37 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA384400974 rs1362852198 |
38 | P>L | Variant assessed as Somatic; 9.501e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1374987773 CA384400950 |
40 | I>T | No |
ClinGen gnomAD |
|
|
CA384400956 rs1413009013 |
40 | I>V | No |
ClinGen gnomAD |
|
|
CA6511806 rs142507537 |
42 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1379334679 CA384400875 |
45 | K>R | No |
ClinGen gnomAD |
|
|
CA235298109 rs148402840 |
47 | S>C | No |
ClinGen ESP TOPMed |
|
|
rs547432731 CA235298103 |
49 | H>Q | No |
ClinGen gnomAD |
|
|
CA384400809 rs547432731 |
49 | H>Q | No |
ClinGen gnomAD |
|
|
CA6511803 rs768203523 |
50 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6511802 rs768203523 |
50 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384400803 rs768203523 |
50 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6511800 rs775454584 |
51 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1258758968 CA384400770 |
53 | K>N | No |
ClinGen TOPMed |
|
|
CA384400764 rs1200564768 |
54 | A>E | No |
ClinGen gnomAD |
|
| TCGA novel | 54 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 54 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6511799 rs574474772 |
55 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745852510 CA6511798 |
56 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1566597004 CA384400747 |
56 | A>P | No |
ClinGen Ensembl |
|
|
CA384400714 rs1308517280 |
58 | P>R | No |
ClinGen gnomAD |
|
|
CA384400719 rs1227065556 |
58 | P>S | No |
ClinGen gnomAD |
|
|
rs772265422 CA6511796 |
59 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs748185349 CA6511795 |
61 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs778993146 CA6511794 |
62 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs77536431 CA6511793 |
63 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA384400639 rs1404197332 |
64 | E>K | No |
ClinGen gnomAD |
|
|
CA6511790 rs780438298 |
66 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384400603 rs754020573 |
66 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 68 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384400558 rs1473996904 |
69 | T>I | No |
ClinGen gnomAD |
|
|
rs1592003614 CA384400547 |
70 | E>K | No |
ClinGen Ensembl |
|
|
CA6511786 rs762323562 |
71 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs751049564 CA6511785 |
71 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1195787886 CA384400467 |
75 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 78 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384400411 rs1212246542 |
79 | G>E | No |
ClinGen gnomAD |
|
|
CA6511784 rs763616857 |
80 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374989744 CA235298001 |
81 | N>H | No |
ClinGen ESP |
|
|
CA384400332 rs1275495418 |
83 | D>G | No |
ClinGen TOPMed |
|
|
CA384400264 rs1334113735 |
86 | K>I | No |
ClinGen gnomAD |
|
|
CA6511783 rs762731548 |
87 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM938967 rs1390785264 CA384400243 |
87 | Q>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1333059727 CA384400207 |
89 | L>P | No |
ClinGen gnomAD |
|
|
rs139904825 CA235297988 |
90 | E>K | No |
ClinGen ESP TOPMed |
|
|
CA235297983 rs200311534 |
91 | L>P | No |
ClinGen 1000Genomes |
|
|
rs1023375791 CA235297965 |
92 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs962488608 CA235297970 |
92 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA384400085 rs1409666453 |
96 | F>L | No |
ClinGen Ensembl |
|
|
rs1188766536 CA384400077 |
96 | F>S | No |
ClinGen TOPMed |
|
|
RCV000676171 CA6511780 rs373396030 |
98 | K>E | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA384400001 rs1393194038 |
99 | L>F | No |
ClinGen gnomAD |
|
|
CA6511779 rs776421572 |
100 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA6511778 rs770791451 |
102 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746919265 CA6511777 |
103 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 107 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778894311 CA6511776 |
107 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1177526076 CA384399830 |
108 | C>S | No |
ClinGen TOPMed |
|
|
CA235297920 rs960384952 |
111 | S>T | No |
ClinGen Ensembl |
|
|
rs145994192 CA235297912 |
112 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA384399637 rs1300934205 |
117 | R>G | No |
ClinGen TOPMed |
|
|
rs1290860282 CA384399601 |
118 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA384399615 rs1468325635 |
118 | T>P | No |
ClinGen gnomAD |
|
|
rs1290860282 CA384399605 |
118 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs756258266 CA6511772 |
120 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 120 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142601254 CA6511770 |
122 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746240904 CA6511771 |
122 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs201591906 CA6511769 |
123 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 123 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6511767 rs138119938 |
126 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6511768 rs138119938 |
126 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA235297856 rs1028313449 |
129 | G>R | No |
ClinGen TOPMed |
|
|
CA384399267 rs974040132 |
131 | I>F | No |
ClinGen TOPMed |
|
|
CA235297838 rs974040132 |
131 | I>L | No |
ClinGen TOPMed |
|
| TCGA novel | 131 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1592003379 CA384399229 |
133 | K>Q | No |
ClinGen Ensembl |
|
|
CA6511765 rs752466432 |
134 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384399174 rs752466432 |
134 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384399143 rs1388193328 |
136 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1388887587 CA384399134 |
137 | E>K | No |
ClinGen gnomAD |
|
|
CA384399103 rs1191109254 |
138 | K>E | No |
ClinGen gnomAD |
|
|
rs764987756 CA6511764 |
140 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs766162060 CA384399040 |
141 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6511761 COSM693257 rs766162060 |
141 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6511762 rs776317283 |
141 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760573269 CA6511760 |
142 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384399016 rs1592003330 |
142 | T>I | No |
ClinGen Ensembl |
|
|
CA235297769 rs185807859 |
143 | F>L | No |
ClinGen 1000Genomes |
|
|
CA6511759 rs549683860 |
145 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1247693957 CA384398903 |
147 | L>I | No |
ClinGen gnomAD |
|
|
rs1414028696 CA384398872 |
148 | I>M | No |
ClinGen TOPMed |
|
|
CA384398867 rs1457599906 |
149 | K>E | No |
ClinGen TOPMed |
|
|
CA6511758 rs749370948 |
149 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6511757 rs749370948 |
149 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs150810572 CA6511756 |
152 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
CA235297739 rs752263937 |
156 | P>H | No |
ClinGen Ensembl |
|
| TCGA novel | 159 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1288059904 CA384398628 |
160 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 162 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs531465164 CA6511753 |
164 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1343993164 CA384398525 |
165 | R>S | No |
ClinGen gnomAD |
|
|
CA6511752 rs757618278 |
166 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA235297701 rs1011196983 |
170 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6511750 rs778340940 |
172 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA6511751 rs747525311 |
172 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs758909335 CA6511749 |
174 | A>V | No |
ClinGen ExAC |
|
| TCGA novel | 176 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6511748 rs752270059 |
178 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA384398329 rs764791765 |
178 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs764791765 CA6511747 |
178 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1434596616 CA384398318 |
179 | L>P | No |
ClinGen gnomAD |
|
|
CA384398283 rs1174615337 |
181 | D>A | No |
ClinGen gnomAD |
|
|
CA6511746 rs35217341 |
182 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1219205420 CA384398262 |
183 | A>T | No |
ClinGen TOPMed |
|
|
rs1039832381 CA235297641 |
183 | A>V | No |
ClinGen TOPMed |
|
|
CA6511744 rs766139244 |
185 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA384398226 rs1331758067 |
185 | E>K | No |
ClinGen TOPMed |
|
|
CA6511742 rs148301688 |
186 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6511743 rs148301688 |
186 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6511741 rs372256799 |
189 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384398154 rs1255545355 |
191 | Q>H | No |
ClinGen gnomAD |
|
|
CA384398151 rs1223273601 |
192 | T>A | No |
ClinGen TOPMed |
|
|
rs761685898 CA6511740 |
194 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs746123650 CA6511737 |
196 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6511738 rs746123650 |
196 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6511736 rs774743963 |
197 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA6511734 rs747405988 |
198 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384398100 rs1592003182 |
198 | N>Y | No |
ClinGen Ensembl |
|
|
CA6511733 rs778226831 |
199 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6511732 rs772728599 |
201 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 201 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748629476 CA6511731 |
204 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs368375856 CA6511730 |
204 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs902948251 CA235297542 |
205 | N>K | No |
ClinGen TOPMed |
|
|
rs1041465961 CA235297535 |
206 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 207 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201411952 CA235297523 COSM1181370 |
211 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA384397800 rs1301313172 |
215 | M>L | No |
ClinGen TOPMed |
|
|
CA235297516 rs200378111 |
215 | M>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6511725 rs200378111 |
215 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1410969094 CA384397781 |
216 | M>V | No |
ClinGen TOPMed |
|
|
rs1478246275 CA384397728 |
218 | S>C | No |
ClinGen Ensembl |
|
|
CA235297506 rs932955719 |
219 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 220 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355541295 CA384397652 |
223 | H>R | No |
ClinGen gnomAD |
|
|
CA384397640 rs1473170831 |
224 | L>F | No |
ClinGen gnomAD |
|
|
rs767255509 CA6511723 |
228 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 229 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751475679 CA6511721 |
236 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 238 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199057969 CA384397346 |
239 | S>T | No |
ClinGen gnomAD |
|
|
CA384397122 rs1227238445 |
248 | S>F | No |
ClinGen gnomAD |
|
|
CA6511718 rs776509690 |
250 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1286445180 CA384397060 |
251 | A>E | No |
ClinGen gnomAD |
|
|
CA384397053 rs1320670707 |
252 | S>R | No |
ClinGen TOPMed |
|
|
rs376662929 CA6511717 |
253 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6511715 rs201891055 |
254 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6511714 rs201891055 |
254 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6511716 rs760760553 |
254 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 256 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 256 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 259 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1306975066 CA384396855 |
261 | G>E | No |
ClinGen gnomAD |
|
|
rs768974468 CA6511711 |
273 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs963234559 CA235297363 |
280 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs748840539 CA235297329 |
281 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384395637 rs1170858712 |
283 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA384395643 rs1170858712 |
283 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA235297325 rs558419291 |
285 | E>G | No |
ClinGen Ensembl |
|
|
rs755818457 CA6511708 |
286 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 286 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA235297292 rs781012632 |
287 | H>Q | No |
ClinGen ExAC TOPMed |
|
|
CA384395502 rs1270880411 |
288 | R>T | No |
ClinGen gnomAD |
|
|
CA6511705 rs368939667 |
289 | K>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1431004420 CA384395478 |
289 | K>R | No |
ClinGen TOPMed |
|
|
rs753975268 CA6511701 |
293 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6511702 rs753975268 |
293 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373640731 CA6511703 |
293 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA384395375 rs1285092501 |
294 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 294 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766329449 CA6511700 |
296 | H>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 296 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449446888 CA384395324 |
296 | H>Y | No |
ClinGen gnomAD |
|
|
CA6511699 rs773549369 |
297 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA6511698 rs773549369 |
297 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1566595333 CA384395228 |
300 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 307 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6511693 COSM3931623 rs749715188 |
310 | R>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA384394972 rs1379602584 |
311 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA384394964 rs1159252631 |
311 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 313 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384394561 rs1450968024 |
314 | V>G | No |
ClinGen gnomAD |
|
|
rs1363562031 CA384394518 |
316 | M>T | No |
ClinGen TOPMed |
|
|
CA384394459 rs1426811947 |
319 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA235296014 rs548358484 |
323 | Y>C | No |
ClinGen 1000Genomes |
|
|
rs1191144099 CA384394363 |
324 | K>R | No |
ClinGen gnomAD |
|
|
CA384394353 rs1487656008 |
325 | A>P | No |
ClinGen gnomAD |
|
|
CA6511672 rs775846982 |
331 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs933140507 CA235296003 |
333 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA384394146 rs1336644503 |
333 | I>T | No |
ClinGen TOPMed |
|
|
CA384394071 rs1255939120 |
337 | R>C | No |
ClinGen gnomAD |
|
|
rs776062597 CA6511669 |
337 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA384394054 rs1314380612 |
338 | L>F | No |
ClinGen gnomAD |
|
|
rs1341388131 CA384394029 |
339 | W>C | No |
ClinGen gnomAD |
|
|
CA6511667 rs746625113 |
339 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA6511668 rs770594701 |
339 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384394050 rs770594701 |
339 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 340 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1280129489 CA384393996 |
341 | I>F | No |
ClinGen gnomAD |
|
|
CA384393973 rs1413018230 |
342 | M>T | No |
ClinGen gnomAD |
|
|
rs1248219239 CA384393940 |
343 | I>T | No |
ClinGen Ensembl |
|
|
CA384393903 rs1399904027 |
345 | Q>* | No |
ClinGen gnomAD |
|
|
rs374034238 CA6511664 |
348 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1007040024 CA235295928 |
350 | Y>* | No |
ClinGen TOPMed |
|
|
CA235295921 rs758760543 |
354 | S>I | No |
ClinGen gnomAD |
|
|
rs758760543 CA384393713 |
354 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 365 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 372 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6511662 rs754898936 |
373 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA384393349 rs1201330730 |
373 | G>V | No |
ClinGen Ensembl |
|
|
rs1320531273 CA384391966 |
374 | E>G | No |
ClinGen TOPMed |
|
|
CA6511635 rs529162529 |
376 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA384391929 rs1477547972 |
377 | Q>* | No |
ClinGen gnomAD |
|
|
rs966254461 CA235290152 |
380 | V>A | No |
ClinGen TOPMed |
|
|
CA6511634 rs751875238 |
380 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA235290153 rs751875238 |
380 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6511633 rs376722302 |
381 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384391844 rs1247117882 |
383 | S>N | No |
ClinGen gnomAD |
|
|
rs373870416 CA6511632 |
385 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1323359345 CA384391829 |
385 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6511631 rs753027081 |
386 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA384391810 rs1377421022 |
387 | E>K | No |
ClinGen gnomAD |
|
|
CA384391779 rs1384669200 |
389 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1181371 CA384391722 rs1163266610 |
394 | N>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 395 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384391633 rs1270361413 |
403 | I>V | No |
ClinGen TOPMed |
|
|
CA235290095 rs950914581 |
408 | S>F | No |
ClinGen Ensembl |
|
|
CA384391595 rs1197225194 |
408 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 408 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384391580 rs1591996478 |
410 | Y>F | No |
ClinGen Ensembl |
|
|
rs1451209889 CA384391584 |
410 | Y>H | No |
ClinGen gnomAD |
|
|
COSM938962 rs1591996467 CA384391567 |
412 | E>* | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA384391538 rs1286278276 |
415 | E>K | No |
ClinGen gnomAD |
|
|
CA384391502 rs1367391769 |
420 | T>A | No |
ClinGen gnomAD |
|
|
CA384391496 rs1344121468 |
421 | A>T | No |
ClinGen gnomAD |
|
|
rs982860718 CA235288606 |
422 | R>* | No |
ClinGen TOPMed |
|
|
rs1331595617 CA384391490 |
422 | R>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 425 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384391455 rs1389208558 |
427 | F>L | No |
ClinGen TOPMed |
|
|
CA235288597 rs775950642 |
433 | V>E | No |
ClinGen Ensembl |
|
|
rs766881094 CA6511606 |
434 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA235288573 rs916895058 |
438 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 440 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 442 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202150785 CA6511604 |
443 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6511603 rs373930149 |
446 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1319716387 CA384391317 |
446 | E>D | No |
ClinGen TOPMed |
|
|
rs761417112 CA6511602 |
447 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1174704545 CA384391301 |
449 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1174704545 CA384391302 |
449 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA384391300 rs1258957727 |
449 | S>N | No |
ClinGen TOPMed |
|
|
rs764045904 CA6511600 |
450 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762845047 CA6511599 |
451 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775364971 CA6511598 |
453 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA6511597 rs769873518 |
454 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243770666 CA384391243 |
457 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1467309244 CA384391239 |
458 | E>* | No |
ClinGen Ensembl |
|
|
rs145840107 CA6511593 |
464 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384391153 rs1171782306 |
466 | A>T | No |
ClinGen TOPMed |
|
|
CA384389867 rs1160809304 |
470 | K>T | No |
ClinGen TOPMed |
|
|
CA6511573 rs768893354 |
472 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA384389838 rs1566580469 |
474 | V>A | No |
ClinGen Ensembl |
|
|
rs780442111 CA6511572 |
476 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317851870 CA384389828 |
476 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6511570 rs192072180 |
477 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384389815 rs1316617744 |
478 | I>V | No |
ClinGen TOPMed |
|
|
CA384389788 rs1332268684 |
481 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 483 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1186144855 CA384389762 |
485 | I>T | No |
ClinGen gnomAD |
|
|
CA6511568 rs368116807 |
487 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6511567 rs757646271 |
488 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6511565 rs777378044 |
489 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384389739 rs777378044 |
489 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751137599 CA6511566 |
489 | A>T | No |
ClinGen ExAC gnomAD |
|
| rs758097606 | 490 | G>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758165290 CA6511564 |
490 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs752376418 CA6511562 |
491 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1179062504 CA384389733 |
491 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1179062504 CA384389732 |
491 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6511560 rs562234415 |
493 | V>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753513456 CA6511559 |
494 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA384389704 rs1209069848 |
496 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs766356712 CA6511558 |
496 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs955662896 CA235300992 |
496 | R>S | No |
ClinGen gnomAD |
|
|
CA384389657 rs1229410282 |
501 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 502 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 505 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6511540 rs766051640 |
506 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1207708965 CA384389608 |
508 | L>V | No |
ClinGen TOPMed |
|
|
CA384389594 rs1276316538 |
510 | T>A | No |
ClinGen gnomAD |
|
|
CA384389590 rs1436850373 |
510 | T>I | No |
ClinGen TOPMed |
|
|
CA384389593 rs1276316538 |
510 | T>S | No |
ClinGen gnomAD |
|
|
rs763022591 CA6511536 |
512 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1357573101 CA384389561 |
515 | C>Y | No |
ClinGen gnomAD |
|
|
CA6511535 rs775372659 |
516 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA6511534 rs770074713 |
518 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1369703833 CA384389532 |
519 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6511533 rs759637252 |
526 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 528 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1162874692 CA384389454 |
531 | Y>C | No |
ClinGen TOPMed |
|
|
rs771401382 CA6511531 |
531 | Y>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 533 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1252519892 CA384389435 |
534 | V>I | No |
ClinGen Ensembl |
|
|
CA6511530 rs747576839 |
536 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs778421394 CA6511529 |
537 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA235299820 rs923925749 |
538 | P>S | No |
ClinGen gnomAD |
|
|
CA384389410 rs923925749 |
538 | P>T | No |
ClinGen gnomAD |
|
|
rs1435045170 CA384389402 |
539 | P>L | No |
ClinGen gnomAD |
|
|
CA235299813 rs935077571 |
539 | P>S | No |
ClinGen TOPMed |
|
|
rs867795575 CA235299807 |
541 | Q>P | No |
ClinGen Ensembl |
|
|
CA384389381 rs1482577178 |
542 | H>Q | No |
ClinGen gnomAD |
|
|
CA384389375 rs1389295130 |
543 | M>T | No |
ClinGen gnomAD |
|
|
rs1255732210 CA384389378 |
543 | M>V | No |
ClinGen gnomAD |
|
|
rs1211275520 CA384389349 |
546 | I>L | No |
ClinGen gnomAD |
|
|
rs1186781118 CA384386107 |
550 | P>L | No |
ClinGen TOPMed |
|
|
CA384386092 rs1242705337 |
551 | Y>C | No |
ClinGen gnomAD |
|
|
CA384386065 rs1319793084 |
552 | M>I | No |
ClinGen gnomAD |
|
|
CA6511511 rs773655555 |
556 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6511510 rs772732463 |
558 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA384385987 rs1328840526 |
558 | R>W | No |
ClinGen gnomAD |
|
|
CA384385955 rs1389158925 COSM693261 |
560 | Q>E | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA6511506 rs749032652 |
563 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA384385850 rs1164819164 |
564 | P>R | No |
ClinGen gnomAD |
|
|
rs900263230 CA235294315 |
566 | S>A | No |
ClinGen Ensembl |
|
|
CA6511503 rs745683523 |
569 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA384385756 rs1252945005 |
570 | M>V | No |
ClinGen gnomAD |
|
|
CA384385740 rs1208123397 |
571 | H>N | No |
ClinGen gnomAD |
|
|
CA384385732 rs1488233579 |
571 | H>R | No |
ClinGen gnomAD |
|
|
rs780922654 CA6511502 |
572 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs562792577 CA235294298 |
574 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6511500 rs751429438 |
574 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6511501 rs562792577 |
574 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229686213 CA384385667 |
576 | T>A | No |
ClinGen TOPMed |
|
|
CA384385648 rs1306727761 |
577 | D>E | No |
ClinGen gnomAD |
|
|
CA235294292 rs944353644 |
578 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6511499 rs765416303 |
579 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs200462514 CA6511498 |
582 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200462514 CA384385590 |
582 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6511497 rs151149571 |
582 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766723246 CA6511496 |
583 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1483463400 CA384385568 |
584 | L>V | No |
ClinGen TOPMed |
|
|
rs113825871 CA235294277 |
585 | H>R | No |
ClinGen Ensembl |
|
|
CA384385539 rs1303256170 |
586 | N>S | No |
ClinGen gnomAD |
|
|
rs1427064095 CA384385513 |
588 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs760934544 CA6511495 |
589 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384385486 rs1158358187 |
590 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA384385490 rs1253995120 |
590 | Y>D | No |
ClinGen TOPMed |
|
|
rs1389041686 CA384385474 |
591 | H>Y | No |
ClinGen TOPMed |
|
|
CA6511493 rs201982720 |
592 | I>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA384385447 COSM1361334 rs1175140260 |
593 | V>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA6511492 rs762435874 |
593 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA235294266 rs545886629 |
595 | R>S | No |
ClinGen Ensembl |
|
|
rs1415592931 CA384385413 |
596 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA384385392 rs1269634027 |
597 | G>A | No |
ClinGen gnomAD |
|
|
CA384385390 rs1269634027 |
597 | G>E | No |
ClinGen gnomAD |
|
|
rs1011018570 CA235291922 |
599 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA384383357 rs1011018570 |
599 | W>C | No |
ClinGen gnomAD |
|
|
rs900410178 CA235291919 |
600 | D>Y | No |
ClinGen Ensembl |
|
|
rs1432044925 CA384383327 |
601 | A>T | No |
ClinGen gnomAD |
|
|
CA6511463 COSM360774 rs770550941 |
601 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA235291915 rs181210390 |
602 | V>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1407112185 CA384383284 |
603 | M>I | No |
ClinGen gnomAD |
|
|
rs746795285 CA6511462 |
603 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6511460 rs771936315 |
604 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6511461 rs777577531 |
604 | D>N | No |
ClinGen ExAC TOPMed |
|
|
COSM1705393 CA6511459 rs748071217 |
605 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs143197357 CA6511458 |
607 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143197357 CA6511457 |
607 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6511454 rs757448382 |
609 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1051092011 CA235291889 |
611 | G>* | No |
ClinGen Ensembl |
|
|
rs566826425 CA6511452 |
617 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA384383091 rs1311759246 |
618 | G>S | No |
ClinGen TOPMed |
|
|
rs1460757498 CA384383082 |
618 | G>V | No |
ClinGen gnomAD |
|
|
CA6511451 rs374704804 |
619 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384383060 rs1456184553 |
620 | A>D | No |
ClinGen gnomAD |
|
|
rs764793532 CA6511450 |
621 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs764793532 CA6511449 |
621 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1214648087 CA384383034 |
622 | M>I | No |
ClinGen gnomAD |
|
|
rs1342073150 CA384383005 |
624 | Y>F | No |
ClinGen gnomAD |
|
|
rs1340465804 CA384382995 |
625 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 630 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6511426 rs760297393 |
631 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1194112931 CA384382636 |
633 | D>G | No |
ClinGen TOPMed |
|
|
COSM1606048 rs772908531 CA6511425 |
634 | E>* | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA384382611 rs1366119402 |
635 | C>S | No |
ClinGen gnomAD |
|
|
CA384382601 rs1165173028 |
636 | T>A | No |
ClinGen gnomAD |
|
|
rs1292918816 CA384382590 |
637 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs774235902 CA6511422 |
640 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA384382537 rs1470971597 |
641 | I>T | No |
ClinGen gnomAD |
|
|
CA6511420 rs749204245 COSM236672 |
644 | E>K | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs776622197 CA6511419 |
646 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA384382490 rs1294665929 |
648 | F>I | No |
ClinGen gnomAD |
|
|
CA384382485 rs1351187794 |
648 | F>L | No |
ClinGen gnomAD |
|
|
CA384382488 rs1214895990 |
648 | F>S | No |
ClinGen gnomAD |
|
|
CA384382489 rs1214895990 |
648 | F>Y | No |
ClinGen gnomAD |
|
|
rs771028895 CA6511418 |
650 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1178510878 CA384382456 |
651 | A>S | No |
ClinGen TOPMed |
|
|
CA6511416 rs778060875 |
655 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA384382366 rs1405641865 |
657 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6511414 rs748536241 |
660 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs779210966 CA6511413 |
661 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384382259 rs1159608221 |
663 | H>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6511412 rs190980733 |
665 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6511398 rs760822721 |
669 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs773117878 CA6511397 |
673 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs772313596 CA6511396 |
682 | G>S | No |
ClinGen ExAC |
|
|
rs1428370330 CA384378891 |
683 | W>C | No |
ClinGen gnomAD |
|
|
CA6511395 rs748340230 |
684 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6511394 COSM431056 rs779301167 |
684 | R>H | lung Variant assessed as Somatic; 0.0 impact. breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA384378851 rs1242737023 |
687 | Q>K | No |
ClinGen gnomAD |
|
|
CA384378813 rs1266423060 |
690 | T>A | No |
ClinGen TOPMed |
|
|
rs944259941 CA235279188 |
692 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6511390 rs756525333 |
692 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6511389 rs749976817 |
693 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6511388 rs377751649 |
693 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377751649 CA384378780 |
693 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1230437921 CA384378776 |
694 | L>* | No |
ClinGen gnomAD |
|
|
rs1216073085 CA384378751 |
697 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 697 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202117269 CA6511387 |
698 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6511386 rs188241882 |
699 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6511385 rs764057994 |
701 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA384378715 rs1446696329 |
702 | K>N | No |
ClinGen TOPMed |
|
|
rs1295887385 CA384378695 |
705 | S>F | No |
ClinGen gnomAD |
|
|
rs1461095524 CA384378675 |
709 | G>R | No |
ClinGen gnomAD |
|
|
CA6511383 rs752634658 |
712 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765058939 CA6511382 |
713 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA384378635 rs1384960293 |
714 | Q>H | No |
ClinGen gnomAD |
|
|
CA6511381 rs759289660 |
714 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400383157 CA384378632 |
715 | Q>* | No |
ClinGen TOPMed |
|
|
CA384378630 rs1184597778 |
715 | Q>R | No |
ClinGen gnomAD |
|
|
CA384378606 rs1385068742 |
718 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1384475973 CA688639896 |
719 | E>A | No |
ClinGen TOPMed |
|
|
rs1481025060 CA384378559 |
725 | G>E | No |
ClinGen gnomAD |
|
|
CA235279133 rs868764462 |
726 | E>D | No |
ClinGen Ensembl |
|
|
rs1206474793 CA384378538 |
728 | S>* | No |
ClinGen gnomAD |
|
|
rs931933135 CA384378529 |
730 | L>M | No |
ClinGen gnomAD |
|
|
CA235279115 rs931933135 |
730 | L>V | No |
ClinGen gnomAD |
|
|
CA384378513 rs1314018240 |
732 | T>K | No |
ClinGen gnomAD |
|
|
rs533410932 CA6511377 |
733 | I>T | No |
ClinGen 1000Genomes ExAC |
|
|
CA384378483 rs920153642 |
736 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs541565694 CA6511374 |
737 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1326029150 CA384378471 |
738 | E>G | No |
ClinGen gnomAD |
|
|
rs572444310 CA235279100 |
738 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1456200979 CA384378464 |
739 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1396534312 CA384378459 |
740 | S>A | No |
ClinGen gnomAD |
|
|
CA6511372 rs746243559 |
740 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1396534312 CA384378460 |
740 | S>P | No |
ClinGen gnomAD |
|
|
rs746243559 CA6511373 |
740 | S>Y | No |
ClinGen ExAC gnomAD |
|
| VAR_062664 | 244 | Q>K | a pancreatic ductal adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
No associated diseases with Q9UBJ2
4 regional properties for Q9UBJ2
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| peroxisomal membrane | The lipid bilayer surrounding a peroxisome. |
| peroxisome | A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| ABC-type transporter activity | Primary active transporter characterized by two nucleotide-binding domains and two transmembrane domains. Uses the energy generated from ATP hydrolysis to drive the transport of a substance across a membrane. |
| acyl-CoA hydrolase activity | Catalysis of the reaction: acyl-CoA + H2O = CoA + a carboxylate. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| ATPase-coupled transmembrane transporter activity | Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source. |
| long-chain fatty acid transporter activity | Enables the transfer of long-chain fatty acids from one side of a membrane to the other. A long-chain fatty acid is a fatty acid with a chain length between C13 and C22. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| fatty acid beta-oxidation | A fatty acid oxidation process that results in the complete oxidation of a long-chain fatty acid. Fatty acid beta-oxidation begins with the addition of coenzyme A to a fatty acid, and occurs by successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively). |
| long-chain fatty acid import into peroxisome | The directed movement of long-chain fatty acids into a peroxisome. A long-chain fatty acid is a fatty acid with a chain length between C13 and C22. |
| myelin maintenance | The process of preserving the structure and function of mature myelin. This includes maintaining the compact structure of myelin necessary for its electrical insulating characteristics as well as the structure of non-compact regions such as Schmidt-Lantermann clefts and paranodal loops. This does not include processes responsible for maintaining the nodes of Ranvier, which are not part of the myelin sheath. |
| negative regulation of cytokine production involved in inflammatory response | Any process that stops, prevents or reduces the frequency, rate or extent of cytokine production involved in inflammatory response. |
| negative regulation of reactive oxygen species biosynthetic process | Any process that stops, prevents or reduces the frequency, rate or extent of reactive oxygen species biosynthetic process. |
| neuron projection maintenance | The organization process that preserves a neuron projection in a stable functional or structural state. A neuron projection is a prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| peroxisome organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a peroxisome. A peroxisome is a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules. |
| positive regulation of fatty acid beta-oxidation | Any process that activates or increases the frequency, rate or extent of fatty acid beta-oxidation. |
| positive regulation of unsaturated fatty acid biosynthetic process | Any process that activates or increases the frequency, rate or extent of unsaturated fatty acid biosynthetic process. |
| response to bacterium | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium. |
| very long-chain fatty acid catabolic process | The chemical reactions and pathways resulting in the breakdown of a fatty acid which has a chain length greater than C22. |
| very long-chain fatty acid metabolic process | The chemical reactions and pathways involving a fatty acid which has a chain length greater than C22. |
11 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P34230 | PXA2 | Peroxisomal long-chain fatty acid import protein 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P31826 | yddA | Inner membrane ABC transporter ATP-binding protein YddA | Escherichia coli (strain K12) | PR |
| P33897 | ABCD1 | ATP-binding cassette sub-family D member 1 | Homo sapiens (Human) | PR |
| O14678 | ABCD4 | Lysosomal cobalamin transporter ABCD4 | Homo sapiens (Human) | PR |
| P28288 | ABCD3 | ATP-binding cassette sub-family D member 3 | Homo sapiens (Human) | PR |
| P48410 | Abcd1 | ATP-binding cassette sub-family D member 1 | Mus musculus (Mouse) | PR |
| O89016 | Abcd4 | Lysosomal cobalamin transporter ABCD4 | Mus musculus (Mouse) | PR |
| P55096 | Abcd3 | ATP-binding cassette sub-family D member 3 | Mus musculus (Mouse) | PR |
| Q61285 | Abcd2 | ATP-binding cassette sub-family D member 2 | Mus musculus (Mouse) | PR |
| P16970 | Abcd3 | ATP-binding cassette sub-family D member 3 | Rattus norvegicus (Rat) | PR |
| Q9QY44 | Abcd2 | ATP-binding cassette sub-family D member 2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTHMLNAAAD | RVKWTRSSAA | KRAACLVAAA | YALKTLYPII | GKRLKQSGHG | KKKAAAYPAA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ENTEILHCTE | TICEKPSPGV | NADFFKQLLE | LRKILFPKLV | TTETGWLCLH | SVALISRTFL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SIYVAGLDGK | IVKSIVEKKP | RTFIIKLIKW | LMIAIPATFV | NSAIRYLECK | LALAFRTRLV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DHAYETYFTN | QTYYKVINMD | GRLANPDQSL | TEDIMMFSQS | VAHLYSNLTK | PILDVMLTSY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TLIQTATSRG | ASPIGPTLLA | GLVVYATAKV | LKACSPKFGK | LVAEEAHRKG | YLRYVHSRII |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ANVEEIAFYR | GHKVEMKQLQ | KSYKALADQM | NLILSKRLWY | IMIEQFLMKY | VWSSSGLIMV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AIPIITATGF | ADGEDGQKQV | MVSERTEAFT | TARNLLASGA | DAIERIMSSY | KEVTELAGYT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ARVYNMFWVF | DEVKRGIYKR | TAVIQESESH | SKNGAKVELP | LSDTLAIKGK | VIDVDHGIIC |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ENVPIITPAG | EVVASRLNFK | VEEGMHLLIT | GPNGCGKSSL | FRILSGLWPV | YEGVLYKPPP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QHMFYIPQRP | YMSLGSLRDQ | VIYPDSVDDM | HDKGYTDQDL | ERILHNVHLY | HIVQREGGWD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| AVMDWKDVLS | GGEKQRMGMA | RMFYHKPKYA | LLDECTSAVS | IDVEGKIFQA | AKGAGISLLS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ITHRPSLWKY | HTHLLQFDGE | GGWRFEQLDT | AIRLTLSEEK | QKLESQLAGI | PKMQQRLNEL |
| 730 | |||||
| CKILGEDSVL | KTIKNEDETS |