Q9BTX7
PR
Gene name |
TTPAL (C20orf121) |
Protein name |
Alpha-tocopherol transfer protein-like |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79183 |
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 Q9BTX7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BTX7-F1 | Predicted | AlphaFoldDB |
244 variants for Q9BTX7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs745696379 CA9870616 |
3 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250327759 CA409113581 |
6 | D>Y | No |
ClinGen gnomAD |
|
|
CA409113600 rs1384795332 |
9 | R>T | No |
ClinGen TOPMed |
|
|
rs1315465482 CA409113612 |
11 | S>G | No |
ClinGen TOPMed |
|
|
rs772322669 CA9870617 |
11 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs367600215 CA315411277 |
12 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs775638181 CA9870618 |
12 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA409113639 rs1324848617 |
15 | A>V | No |
ClinGen TOPMed |
|
|
rs776713803 CA409113647 |
17 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA409113649 rs1016097965 |
17 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1016097965 CA315411295 |
17 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs776713803 CA9870622 |
17 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1600784033 CA409113656 |
19 | E>K | No |
ClinGen Ensembl |
|
|
CA9870623 rs762266853 |
25 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA409113699 rs1170100310 |
25 | P>S | No |
ClinGen gnomAD |
|
|
CA409113697 rs1170100310 |
25 | P>T | No |
ClinGen gnomAD |
|
|
rs143383194 CA315411303 |
26 | P>L | No |
ClinGen TOPMed |
|
|
CA409113704 rs1311513179 |
26 | P>S | No |
ClinGen gnomAD |
|
|
rs903945162 CA315411308 |
28 | P>S | No |
ClinGen TOPMed |
|
|
rs778082516 CA9870625 |
29 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778082516 CA409113723 |
29 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409113734 rs1229000144 |
31 | Y>S | No |
ClinGen gnomAD |
|
|
CA315411341 rs1052450039 |
33 | C>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 34 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409113790 rs1282129364 |
40 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 41 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9870628 rs767195173 |
43 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9870631 rs777373930 |
44 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs755848772 CA9870630 |
44 | R>W | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 45 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 45 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9870632 rs753432973 |
45 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs896519455 CA315411356 |
50 | K>E | No |
ClinGen TOPMed |
|
|
rs1454267257 CA409113866 |
51 | P>L | No |
ClinGen gnomAD |
|
|
rs1466900533 CA409113894 |
55 | L>H | No |
ClinGen gnomAD |
|
|
rs1377579658 CA409113891 |
55 | L>I | No |
ClinGen gnomAD |
|
|
CA409113899 rs1287872288 |
56 | R>Q | No |
ClinGen gnomAD |
|
|
rs1330661507 CA409113903 |
57 | D>Y | No |
ClinGen TOPMed |
|
|
CA315411361 rs1013829159 |
58 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9870635 rs749666166 |
62 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771694647 CA9870636 |
64 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA9870637 rs779911333 |
65 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9870639 rs149667237 |
66 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149667237 CA409113962 |
66 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9870638 COSM1713525 rs371589167 |
66 | R>W | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs761931282 CA9870641 |
68 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs773660034 CA9870643 |
70 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs773660034 CA409113987 |
70 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs763521094 CA9870644 |
71 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1041927150 CA315411421 |
72 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1269463621 CA409114020 |
75 | S>Y | No |
ClinGen TOPMed |
|
|
CA9870646 rs181809797 |
76 | L>F | No |
ClinGen 1000Genomes ExAC |
|
|
rs374073244 CA315411444 |
77 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148854453 CA9870648 |
77 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9870650 rs753381840 |
78 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9870651 rs756782189 |
79 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409114043 rs1215449677 |
79 | A>S | No |
ClinGen TOPMed |
|
|
rs1320816204 CA409114053 |
80 | F>L | No |
ClinGen gnomAD |
|
|
rs750265809 CA9870653 |
83 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs368005756 CA9870654 |
83 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1390597460 CA409114083 |
86 | R>* | No |
ClinGen gnomAD |
|
|
CA9870655 rs779674420 |
86 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs746844128 CA9870656 |
87 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9870657 COSM188411 rs768842525 |
88 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1248930000 CA409114121 |
92 | Y>H | No |
ClinGen gnomAD |
|
|
rs1177150562 COSM1411969 CA409114128 |
93 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA409114136 rs748223753 |
94 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748223753 CA9870659 |
94 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159385612 CA409114149 |
96 | L>P | No |
ClinGen gnomAD |
|
|
CA9870661 rs35355899 |
97 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9870664 rs746679741 |
100 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409114170 rs746679741 |
100 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760031080 CA9870665 |
101 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA409114178 rs79781066 |
101 | N>I | No |
ClinGen gnomAD |
|
|
rs79781066 CA315411490 |
101 | N>S | No |
ClinGen gnomAD |
|
|
CA409114182 rs1375204696 |
102 | Y>H | No |
ClinGen gnomAD |
|
|
CA409114203 rs1410231241 |
104 | S>R | No |
ClinGen gnomAD |
|
|
CA409114209 rs1355107139 |
105 | C>Y | No |
ClinGen gnomAD |
|
|
CA9870669 rs568599941 |
107 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409114233 rs764602678 |
108 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs531053823 COSM724500 CA9870673 |
111 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA409114274 rs1484230595 |
114 | N>S | No |
ClinGen gnomAD |
|
|
rs751344584 CA9870674 |
115 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs925332299 CA315411528 |
116 | L>S | No |
ClinGen TOPMed |
|
|
CA315411531 rs935391778 |
118 | P>L | No |
ClinGen TOPMed |
|
|
rs780969772 CA9870676 COSM3841076 |
119 | S>L | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9870677 rs748261110 |
121 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs993259578 CA315411542 |
122 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 124 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409114345 rs1600784977 |
125 | L>P | No |
ClinGen Ensembl |
|
|
CA9870679 rs777679223 |
125 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA315411563 rs551155004 |
126 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs749428528 CA9870680 |
128 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409114372 rs1312119555 |
130 | L>V | No |
ClinGen gnomAD |
|
|
rs746378949 CA9870683 |
132 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772503673 CA9870684 |
133 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs201624804 CA315411604 |
140 | G>R | No |
ClinGen gnomAD |
|
|
CA409114459 rs1222567798 |
143 | V>G | No |
ClinGen TOPMed |
|
|
rs374286934 CA9870686 |
144 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA409114471 rs1279983394 |
145 | C>* | No |
ClinGen gnomAD |
|
|
CA409114468 rs1349410231 |
145 | C>Y | No |
ClinGen gnomAD |
|
|
COSM32271 rs764981264 CA9870687 |
147 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9870688 rs772572823 |
147 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764981264 CA409114480 |
147 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA315414452 rs1049412587 |
149 | D>E | No |
ClinGen TOPMed |
|
|
CA315414450 rs112942890 |
149 | D>G | No |
ClinGen Ensembl |
|
|
rs769315893 CA9870712 |
151 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1198568910 CA409114526 |
152 | I>K | No |
ClinGen TOPMed |
|
| TCGA novel | 152 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762518895 CA9870714 |
154 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA409114560 rs770369910 |
157 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9870715 rs770369910 |
157 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs773873860 CA409114564 |
158 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9870716 rs773873860 |
158 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759433292 CA9870717 |
162 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA9870718 rs767486476 |
163 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA315414504 rs767486476 |
163 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA9870719 rs777121466 |
163 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568770886 CA409114616 |
166 | Y>C | No |
ClinGen Ensembl |
|
|
CA9870722 rs763798283 |
167 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs753440512 CA9870723 |
168 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs753440512 CA315414542 |
168 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1453316627 CA409114634 |
169 | L>S | No |
ClinGen gnomAD |
|
|
rs377607598 CA9870725 |
173 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9870724 rs779093398 |
173 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA9870727 rs758950748 |
175 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758950748 CA9870726 |
175 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409114701 rs1409286883 |
179 | Q>* | No |
ClinGen TOPMed |
|
|
rs1394119472 CA409114709 |
180 | V>L | No |
ClinGen TOPMed |
|
|
CA315414560 rs111535776 |
181 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1389185338 CA409114720 |
182 | G>R | No |
ClinGen gnomAD |
|
|
CA409114726 rs1475592220 |
183 | I>L | No |
ClinGen TOPMed |
|
|
CA315414562 rs893501204 |
183 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 183 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1005631735 CA315414561 |
183 | I>T | No |
ClinGen Ensembl |
|
|
rs1259480131 CA409114747 |
186 | L>P | No |
ClinGen gnomAD |
|
|
rs1440526656 CA409114759 |
188 | D>G | No |
ClinGen gnomAD |
|
|
CA9870728 rs747328979 |
188 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA409114757 COSM224040 rs747328979 |
188 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9870730 rs140656213 |
190 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781425415 CA9870731 |
191 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA9870732 rs748890218 |
194 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs770602774 CA9870733 |
196 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs574587949 CA409114823 |
198 | S>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs574587949 CA315414607 |
198 | S>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 200 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA315414619 rs371320519 |
204 | I>M | No |
ClinGen ESP TOPMed |
|
|
rs773824518 CA9870734 |
204 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1568771095 CA409114872 |
205 | A>V | No |
ClinGen Ensembl |
|
|
CA409114897 rs1568771102 |
209 | I>V | No |
ClinGen Ensembl |
|
|
CA409114917 rs1435840081 |
212 | L>F | No |
ClinGen gnomAD |
|
|
rs964178436 CA315416235 |
214 | D>V | No |
ClinGen Ensembl |
|
|
CA409114959 rs1314349788 |
216 | F>S | No |
ClinGen TOPMed |
|
|
rs1434509086 CA409114963 |
217 | P>S | No |
ClinGen gnomAD |
|
|
CA409114971 rs1363811055 |
218 | I>F | No |
ClinGen TOPMed |
|
|
COSM1027098 CA409114980 rs1314204418 |
219 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1318511918 COSM137212 CA409114977 |
219 | R>W | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA409115004 rs1568772323 |
223 | V>F | No |
ClinGen Ensembl |
|
|
CA409115013 rs1396099562 |
224 | H>R | No |
ClinGen gnomAD |
|
|
rs773500353 CA9870764 |
226 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230433486 CA409115031 |
227 | N>S | No |
ClinGen gnomAD |
|
|
CA315416306 rs1031573995 |
228 | E>G | No |
ClinGen TOPMed |
|
|
rs1298272948 CA409115050 |
230 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs763282282 CA9870765 |
231 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs376925812 CA315416315 |
233 | K>T | No |
ClinGen ESP |
|
|
CA409115102 rs1254482030 |
238 | I>V | No |
ClinGen gnomAD |
|
|
rs1600793636 CA409115125 |
241 | P>S | No |
ClinGen Ensembl |
|
|
CA409115134 rs1296739924 |
242 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs755480833 CA9870768 |
243 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 245 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1428056106 CA409115170 |
247 | I>M | No |
ClinGen TOPMed |
|
|
rs767960735 CA9870769 |
247 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 247 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409115237 rs1434147909 |
254 | H>L | No |
ClinGen gnomAD |
|
|
rs1409362866 CA409115254 |
256 | S>F | No |
ClinGen gnomAD |
|
|
rs1199866495 CA409115287 |
261 | L>I | No |
ClinGen gnomAD |
|
|
rs1286600321 CA409115307 |
264 | N>Y | No |
ClinGen TOPMed |
|
|
rs199850704 CA409115316 |
265 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199850704 CA9870793 |
265 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759491629 CA9870794 |
267 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9870796 rs779629170 |
269 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA9870795 rs758043564 |
269 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9870797 rs746522580 |
270 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs189447942 CA9870799 |
271 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA409115355 rs1290268861 |
272 | K>Q | No |
ClinGen TOPMed |
|
|
rs1186242160 CA409115385 |
276 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9870801 rs769883952 |
277 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9870802 rs777682243 |
277 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9870805 rs59069332 |
278 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs59069332 CA9870804 VAR_061788 |
278 | A>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9870806 rs759813910 |
280 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409115408 rs1364378331 |
280 | E>V | No |
ClinGen TOPMed |
|
|
CA9870807 rs772084978 |
281 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs935302738 CA315418241 |
281 | L>V | No |
ClinGen TOPMed |
|
|
CA9870810 rs138479504 |
282 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs556079203 CA9870809 |
282 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9870808 rs556079203 |
282 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA409115422 rs1600797315 |
283 | T>A | No |
ClinGen Ensembl |
|
|
CA409115436 rs1465970448 |
285 | T>I | No |
ClinGen gnomAD |
|
|
rs765638121 CA9870813 |
286 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA409115442 rs1372188715 |
286 | W>G | No |
ClinGen gnomAD |
|
|
rs200119486 CA9870815 |
288 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409115460 rs1226722642 |
288 | A>V | No |
ClinGen gnomAD |
|
|
rs150196289 CA315418294 |
289 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9870817 rs376084817 |
291 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA409115480 rs1490236065 |
292 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 294 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs529354787 CA9870820 |
296 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1301331531 CA409115511 |
297 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9870821 rs770568822 |
297 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA9870822 rs778786390 |
298 | V>E | No |
ClinGen ExAC |
|
|
rs746033217 CA9870823 |
299 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772317551 CA9870824 |
300 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400263331 CA409115536 |
301 | F>I | No |
ClinGen TOPMed |
|
|
rs775522840 CA9870825 |
302 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1600797531 CA409115557 |
303 | Q>H | No |
ClinGen Ensembl |
|
|
rs1427787612 CA409115555 |
303 | Q>R | No |
ClinGen gnomAD |
|
|
rs549116360 CA315418311 |
304 | P>H | No |
ClinGen 1000Genomes TOPMed |
|
|
rs549116360 CA409115562 |
304 | P>R | No |
ClinGen 1000Genomes TOPMed |
|
|
CA9870827 rs760798901 |
306 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs769145195 CA9870828 |
307 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9870829 rs776933800 |
309 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1358872117 CA409115599 |
310 | S>T | No |
ClinGen gnomAD |
|
|
CA9870832 rs750831816 |
313 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA315418348 rs61737149 |
313 | G>S | No |
ClinGen Ensembl |
|
|
CA9870833 rs759233576 |
314 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409115628 rs1228264863 |
315 | T>A | No |
ClinGen gnomAD |
|
|
rs144723139 CA9870835 |
315 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1344736521 CA409115631 |
316 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs753664226 CA9870838 |
319 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171064146 CA409115666 |
322 | T>A | No |
ClinGen TOPMed |
|
|
CA9870841 rs202027183 |
322 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409115673 rs1427380770 |
323 | S>* | No |
ClinGen TOPMed |
|
|
CA409115676 rs983744287 |
324 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs983744287 CA315418401 |
324 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs758603362 CA9870843 |
326 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs769050738 CA9870842 |
327 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 327 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780319373 CA9870844 |
327 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs768662783 CA9870846 |
329 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3405123 rs1259122244 CA409115732 |
332 | R>* | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA9870849 rs200770460 |
332 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA315418427 rs200770460 |
332 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA9870851 rs763471369 |
335 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q9BTX7
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| phosphatidylinositol bisphosphate binding | Binding to phosphatidylinositol bisphosphate. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
26 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9UDX3 | SEC14L4 | SEC14-like protein 4 | Homo sapiens (Human) | PR |
| Q92503 | SEC14L1 | SEC14-like protein 1 | Homo sapiens (Human) | PR |
| B5MCN3 | SEC14L6 | Putative SEC14-like protein 6 | Homo sapiens (Human) | PR |
| Q8IUQ0 | CLVS1 | Clavesin-1 | Homo sapiens (Human) | PR |
| Q5SYC1 | CLVS2 | Clavesin-2 | Homo sapiens (Human) | PR |
| Q8R0F9 | Sec14l4 | SEC14-like protein 4 | Mus musculus (Mouse) | PR |
| Q8BG92 | Clvs2 | Clavesin-2 | Mus musculus (Mouse) | PR |
| Q9D4C9 | Clvs1 | Clavesin-1 | Mus musculus (Mouse) | PR |
| Q9D3D0 | Ttpal | Alpha-tocopherol transfer protein-like | Mus musculus (Mouse) | PR |
| A6JFQ6 | Clvs1 | Clavesin-1 | Rattus norvegicus (Rat) | PR |
| A6JUQ6 | Clvs2 | Clavesin-2 | Rattus norvegicus (Rat) | PR |
| Q09270 | C34C12.6 | CRAL-TRIO domain-containing protein C34C12.6 | Caenorhabditis elegans | PR |
| Q56ZI2 | PATL2 | Patellin-2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q94C59 | PATL4 | Patellin-4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q56WK6 | PATL1 | Patellin-1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q56Z59 | PATL3 | Patellin-3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8GXC6 | SFH5 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SIW3 | SFH7 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SI13 | SFH10 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH10 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4IHJ0 | SFH8 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q93ZE9 | SFH3 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4J7S8 | SFH9 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9M0R2 | PATL5 | Patellin-5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q94A34 | SFH12 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH12 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4JVA6 | SFH6 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q5SPP0 | clvs2 | Clavesin-2 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSEESDSLRT | SPSVASLSEN | ELPPPPEPPG | YVCSLTEDLV | TKAREELQEK | PEWRLRDVQA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LRDMVRKEYP | NLSTSLDDAF | LLRFLRARKF | DYDRALQLLV | NYHSCRRSWP | EVFNNLKPSA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LKDVLASGFL | TVLPHTDPRG | CHVVCIRPDR | WIPSNYPITE | NIRAIYLTLE | KLIQSEETQV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NGIVILADYK | GVSLSKASHF | GPFIAKKVIG | ILQDGFPIRI | KAVHVVNEPR | IFKGIFAIIK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PFLKEKIANR | FFLHGSDLNS | LHTNLPRSIL | PKEYGGTAGE | LDTATWNAVL | LASEDDFVKE |
| 310 | 320 | 330 | 340 | ||
| FCQPVPACDS | ILGQTLLPEG | LTSDAQCDDS | LRAVKSQLYS | CY |