Q6FI81
Gene name |
CIAPIN1 |
Protein name |
Anamorsin |
Names |
Cytokine-induced apoptosis inhibitor 1, Fe-S cluster assembly protein DRE2 homolog |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57019 |
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
4 structures for Q6FI81
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2LD4 | NMR | - | A | 1-172 | PDB |
| 2YUI | NMR | - | A | 1-170 | PDB |
| 4M7R | X-ray | 180 A | A/B | 1-172 | PDB |
| AF-Q6FI81-F1 | Predicted | AlphaFoldDB |
219 variants for Q6FI81
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8076033 rs766425632 |
8 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1414855745 CA396046556 |
11 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs750543292 CA8076031 |
13 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1598028442 CA396046514 |
14 | V>G | No |
ClinGen Ensembl |
|
|
rs200589955 CA8076030 |
15 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396046505 rs1157289338 |
15 | V>I | No |
ClinGen gnomAD |
|
|
rs1179039404 CA396046495 |
16 | W>R | No |
ClinGen gnomAD |
|
|
rs774159472 CA8076028 |
17 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA396046443 rs1428559181 |
18 | K>N | No |
ClinGen TOPMed |
|
|
rs1237441422 CA396046449 |
18 | K>T | No |
ClinGen gnomAD |
|
|
CA281576518 rs1043126 |
19 | S>L | No |
ClinGen Ensembl |
|
|
rs762938715 CA8076026 |
20 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1356951012 CA396046413 |
20 | S>Y | No |
ClinGen TOPMed |
|
|
rs1024328742 CA281576506 |
21 | P>A | No |
ClinGen TOPMed |
|
|
CA396046397 rs1289290354 |
21 | P>L | No |
ClinGen TOPMed |
|
|
rs1024328742 CA396046400 |
21 | P>S | No |
ClinGen TOPMed |
|
|
rs775064708 CA8076025 |
22 | V>M | No |
ClinGen ExAC TOPMed |
|
|
CA8076024 rs370700464 |
26 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8076023 rs745400937 |
28 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs780659888 CA8076022 |
29 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444846204 CA396046266 |
30 | D>G | No |
ClinGen TOPMed |
|
|
rs181730613 CA8076021 |
31 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1353599025 CA396046241 |
33 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1353599025 CA396046242 |
33 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1472738095 CA396046238 |
33 | Q>R | No |
ClinGen TOPMed |
|
|
CA8076019 rs11557672 VAR_033747 |
34 | A>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8076020 rs11557672 |
34 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8076016 rs200697174 |
36 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140903446 CA8076014 |
37 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA281576431 rs746806516 |
38 | N>D | No |
ClinGen Ensembl |
|
|
rs762059992 CA8076012 |
40 | G>A | No |
ClinGen ExAC gnomAD |
|
|
COSM971828 rs751344858 CA8076011 |
41 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs763946631 CA8076010 |
41 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775237218 CA8076008 |
42 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396046142 rs1217456701 |
44 | V>L | No |
ClinGen gnomAD |
|
|
CA8076007 rs201151686 |
47 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1209183570 CA396046071 |
49 | Q>* | No |
ClinGen gnomAD |
|
|
rs770686351 CA8076004 |
50 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA8076003 rs746714326 |
51 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8076001 rs11557674 VAR_033748 |
52 | Q>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1434559902 CA396045999 |
52 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA396045760 rs1345209531 |
53 | S>Y | No |
ClinGen TOPMed |
|
|
CA396045748 rs1598027252 |
54 | A>V | No |
ClinGen Ensembl |
|
|
rs1452418305 CA396045733 |
55 | H>R | No |
ClinGen TOPMed |
|
|
CA396045645 rs1287702859 |
59 | S>N | No |
ClinGen TOPMed |
|
|
CA396045635 rs1174413623 |
59 | S>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 60 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424067607 CA396045600 |
61 | D>A | No |
ClinGen gnomAD |
|
|
CA396045581 rs1199652429 |
62 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 63 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs183776874 CA8075984 |
63 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA396045544 rs1248966188 |
64 | L>V | No |
ClinGen gnomAD |
|
|
CA8075983 rs772941639 |
65 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA281575750 rs533025302 |
66 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA8075982 rs545260017 |
71 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8075981 rs368064049 |
72 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA396045345 rs368064049 |
72 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA396045309 rs1311355266 |
74 | L>M | No |
ClinGen gnomAD |
|
|
rs1264034725 CA396045264 |
75 | H>Q | No |
ClinGen gnomAD |
|
|
rs770176138 CA8075979 |
76 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs201547375 CA8075978 |
78 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8075977 rs781669389 |
79 | I>T | No |
ClinGen ExAC |
|
|
CA8075976 rs757273392 |
80 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8075975 rs191597700 |
81 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8075974 rs758660761 |
84 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758660761 CA8075973 |
84 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202064597 CA8075971 |
85 | R>Q | Variant assessed as Somatic; 0.0002319 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs752413838 CA8075972 |
85 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754865510 CA8075970 |
86 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs766432066 CA8075968 |
88 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8075969 rs753740875 |
88 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760213310 CA8075967 |
89 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA396044879 rs1180847409 |
91 | G>R | No |
ClinGen gnomAD |
|
|
CA8075966 rs772875822 |
92 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA396044817 rs1252623826 |
93 | L>V | No |
ClinGen gnomAD |
|
|
rs1598027107 COSM1728360 CA396044759 |
95 | L>P | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1482833380 CA396044707 |
96 | K>R | No |
ClinGen gnomAD |
|
|
rs1205889703 CA396044632 |
98 | P>Q | No |
ClinGen gnomAD |
|
|
CA396044620 rs1267687279 |
99 | V>I | No |
ClinGen gnomAD |
|
|
CA8075963 rs775701720 |
100 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 101 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8075962 rs770131811 |
102 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8075947 rs201717110 |
104 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA281574405 rs371150671 |
104 | D>E | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 104 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200237174 CA8075946 |
105 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8075945 rs751167560 |
106 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA281574380 rs889130849 |
106 | N>S | No |
ClinGen Ensembl |
|
|
rs1292030804 CA396043481 |
107 | S>G | No |
ClinGen TOPMed |
|
|
CA8075944 rs763677748 |
111 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8075943 rs377204698 |
112 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201936093 CA8075942 |
112 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8075940 rs761232060 |
113 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA281574340 rs933380741 |
114 | K>E | No |
ClinGen Ensembl |
|
|
rs778925110 CA8075939 |
116 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8075938 rs772120629 |
116 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396043401 rs368842581 |
117 | S>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA281574322 rs368842581 |
117 | S>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1385819236 CA396043384 |
119 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs924745770 CA281574319 |
120 | T>A | No |
ClinGen Ensembl |
|
|
rs1165360970 CA396043364 |
120 | T>I | No |
ClinGen gnomAD |
|
|
CA8075937 rs748187279 |
122 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA396043319 rs1194244757 |
124 | L>H | No |
ClinGen gnomAD |
|
|
CA396043298 rs1208762937 |
126 | E>* | No |
ClinGen TOPMed |
|
|
rs779143423 CA8075936 |
127 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8075935 rs753582284 |
128 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA396043254 rs1209344563 |
129 | E>K | No |
ClinGen gnomAD |
|
|
rs772476489 CA8075920 |
132 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773648892 CA8075921 |
132 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761909212 CA8075919 |
133 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768900319 CA8075917 |
136 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779988554 CA8075915 |
138 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396041916 rs1329413106 |
140 | V>L | No |
ClinGen gnomAD |
|
|
rs769656205 CA8075914 |
141 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176057579 CA396041832 |
143 | V>I | No |
ClinGen gnomAD |
|
|
CA8075912 rs781144913 |
144 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM416964 rs200237459 CA8075911 |
144 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs777209696 CA8075909 |
145 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs758044193 CA8075908 |
147 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1234793124 CA396041746 |
147 | L>V | No |
ClinGen TOPMed |
|
|
CA396041693 rs1355075357 |
149 | H>R | No |
ClinGen TOPMed |
|
|
rs367825068 CA8075906 |
150 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1246309963 CA396041607 |
151 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA396041599 rs1255895129 |
152 | D>N | No |
ClinGen gnomAD |
|
|
CA396041511 rs1222670053 |
155 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 158 | Q>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396041412 rs1204629763 |
158 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA396041351 rs1476376868 |
160 | T>I | No |
ClinGen TOPMed |
|
|
CA8075903 rs768033422 |
164 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8075904 rs750781006 |
164 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8075901 rs774474867 |
166 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA396041172 rs1456463525 |
167 | E>G | No |
ClinGen TOPMed |
|
|
rs764144974 CA8075900 |
168 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA396041150 rs1335847833 |
169 | G>D | No |
ClinGen gnomAD |
|
|
rs1408604602 CA396041124 |
170 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA396041126 rs1408604602 |
170 | S>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 173 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8075898 rs775808371 |
177 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396040983 rs1383393927 |
178 | I>V | No |
ClinGen gnomAD |
|
|
rs1408790486 CA396040930 |
180 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs745627943 CA8075896 |
181 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA396040489 rs1357265598 |
188 | P>L | No |
ClinGen TOPMed |
|
|
CA281572806 rs137979809 |
189 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 189 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1242224163 CA396040460 |
190 | V>M | No |
ClinGen TOPMed |
|
|
rs764484598 CA8075868 |
193 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA396040359 rs1316100345 |
194 | A>V | No |
ClinGen TOPMed |
|
|
CA396040220 rs1162254095 |
200 | L>H | No |
ClinGen TOPMed |
|
|
CA396040148 rs1479202972 |
204 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1159758435 CA396040132 |
205 | M>V | No |
ClinGen TOPMed |
|
|
rs753011617 CA8075862 |
208 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA396039990 rs1249933935 |
209 | S>G | No |
ClinGen gnomAD |
|
|
rs535658771 CA8075860 |
210 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs974082167 CA281572395 |
216 | D>G | No |
ClinGen Ensembl |
|
|
rs778341332 CA396039690 |
217 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8075840 rs747314396 |
217 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs758973105 CA8075838 |
222 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA396039568 rs1174416920 |
222 | E>D | No |
ClinGen TOPMed |
|
|
CA8075836 rs779579156 |
227 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1158384696 CA396039320 |
231 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8075834 rs140678062 |
233 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs562918898 CA8075835 |
233 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 234 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396039264 rs1181551737 |
234 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 234 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766476979 CA8075833 |
236 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396039131 rs1407716280 |
239 | E>K | No |
ClinGen TOPMed |
|
|
rs1205786555 CA396039063 |
242 | K>N | No |
ClinGen gnomAD |
|
|
CA396039037 rs1345798948 |
244 | K>E | No |
ClinGen TOPMed |
|
|
rs761001891 CA8075832 |
246 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280877352 CA396038982 |
248 | N>H | No |
ClinGen TOPMed |
|
|
rs989685762 CA281571959 |
252 | G>V | No |
ClinGen Ensembl |
|
|
CA396038895 COSM1248333 rs1181713950 |
255 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA8075812 rs767739743 |
257 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA396038823 rs1412064443 |
259 | K>R | No |
ClinGen TOPMed |
|
|
rs1160025207 CA396038803 |
260 | E>D | No |
ClinGen TOPMed |
|
|
CA8075810 rs751385677 |
263 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA396038756 rs1164801440 |
263 | R>K | No |
ClinGen gnomAD |
|
|
rs1377007057 CA396038739 |
264 | E>A | No |
ClinGen gnomAD |
|
|
CA281571930 rs576642106 |
266 | M>L | No |
ClinGen 1000Genomes TOPMed |
|
|
rs763917422 CA8075809 |
267 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA396038663 rs1194141126 |
269 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA396038655 rs371655964 |
269 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396038665 rs1194141126 |
269 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA281571905 rs774985672 |
269 | Q>R | No |
ClinGen Ensembl |
|
|
CA8075806 rs373917007 |
270 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1567569476 CA396037939 |
275 | G>A | No |
ClinGen Ensembl |
|
|
rs759134563 CA396037922 |
276 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs776016026 CA8075779 |
278 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3818149 CA8075776 rs745916329 |
281 | D>N | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs548083325 CA281571186 |
282 | A>T | No |
ClinGen Ensembl |
|
|
CA8075775 rs781308484 |
283 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8075774 rs771140310 |
284 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747188516 CA8075773 |
284 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771140310 CA396037687 |
284 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1598019889 CA396037666 |
285 | C>Y | No |
ClinGen Ensembl |
|
|
rs777875310 CA8075772 |
287 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758167973 CA8075771 |
287 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA281571174 rs545433080 |
289 | P>S | No |
ClinGen 1000Genomes |
|
|
rs752468818 CA8075770 |
290 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA8075769 rs778882419 |
291 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA281571170 rs56343076 |
292 | G>R | No |
ClinGen Ensembl |
|
|
rs184348622 CA281571168 |
293 | M>I | No |
ClinGen 1000Genomes |
|
|
CA8075767 rs753383450 |
294 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1240938141 CA396037492 |
296 | F>Y | No |
ClinGen gnomAD |
|
|
rs1202625534 CA396037476 |
298 | P>A | No |
ClinGen gnomAD |
|
|
rs1461431076 CA396037473 |
298 | P>R | No |
ClinGen gnomAD |
|
|
rs192801865 CA8075765 |
300 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61743712 CA396037444 |
301 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1416564999 CA396037436 |
302 | V>A | No |
ClinGen TOPMed |
|
|
CA396037412 rs1308796532 |
305 | S>N | No |
ClinGen gnomAD |
|
|
CA396037399 rs1567568872 |
306 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 307 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8075761 rs575853934 |
307 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs760103974 CA8075758 |
310 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs760103974 CA396037339 |
310 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs770273808 CA8075759 |
310 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396037289 rs1314704965 |
313 | A>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
No associated diseases with Q6FI81
3 regional properties for Q6FI81
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Methyltransferase type 11 | 25 - 94 | IPR013216 |
| domain | Anamorsin, C-terminal | 236 - 267 | IPR046408-1 |
| domain | Anamorsin, C-terminal | 270 - 303 | IPR046408-2 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| mitochondrial intermembrane space | The region between the inner and outer lipid bilayers of the mitochondrial envelope. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| 2 iron, 2 sulfur cluster binding | Binding to a 2 iron, 2 sulfur (2Fe-2S) cluster; this cluster consists of two iron atoms, with two inorganic sulfur atoms found between the irons and acting as bridging ligands. |
| 4 iron, 4 sulfur cluster binding | Binding to a 4 iron, 4 sulfur (4Fe-4S) cluster; this cluster consists of four iron atoms, with the inorganic sulfur atoms found between the irons and acting as bridging ligands. |
| electron transfer activity | Any molecular entity that serves as an electron acceptor and electron donor in an electron transport chain. An electron transport chain is a process in which a series of electron carriers operate together to transfer electrons from donors to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient. |
| metal ion binding | Binding to a metal ion. |
| methyltransferase activity | Catalysis of the transfer of a methyl group to an acceptor molecule. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| hemopoiesis | The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. |
| iron-sulfur cluster assembly | The incorporation of iron and exogenous sulfur into a metallo-sulfur cluster. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| sequestering of metal ion | The process of binding or confining metal ions such that they are separated from other components of a biological system. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MADFGISAGQ | FVAVVWDKSS | PVEALKGLVD | KLQALTGNEG | RVSVENIKQL | LQSAHKESSF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DIILSGLVPG | STTLHSAEIL | AEIARILRPG | GCLFLKEPVE | TAVDNNSKVK | TASKLCSALT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LSGLVEVKEL | QREPLTPEEV | QSVREHLGHE | SDNLLFVQIT | GKKPNFEVGS | SRQLKLSITK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KSSPSVKPAV | DPAAAKLWTL | SANDMEDDSM | DLIDSDELLD | PEDLKKPDPA | SLRAASCGEG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KKRKACKNCT | CGLAEELEKE | KSREQMSSQP | KSACGNCYLG | DAFRCASCPY | LGMPAFKPGE |
| 310 | |||||
| KVLLSDSNLH | DA |