Q9H9B4
PR
Gene name |
SFXN1 |
Protein name |
Sideroflexin-1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:94081 |
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 Q9H9B4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H9B4-F1 | Predicted | AlphaFoldDB |
273 variants for Q9H9B4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs938599458 CA132235015 |
4 | E>D | No |
ClinGen Ensembl |
|
|
rs752225440 CA3565501 |
4 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs755612090 CA3565502 |
5 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3565503 rs777170892 |
6 | P>S | No |
ClinGen ExAC |
|
|
CA3565504 rs749192376 |
7 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA362230726 rs1223477476 |
8 | N>S | No |
ClinGen gnomAD |
|
|
rs140479369 CA132235027 |
9 | I>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA362230745 rs1198824424 |
11 | I>V | No |
ClinGen gnomAD |
|
|
rs778768262 CA362230755 |
12 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778768262 CA3565506 |
12 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362230763 rs1581270585 |
13 | E>D | No |
ClinGen Ensembl |
|
|
rs745724276 CA3565507 |
13 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3565508 rs768846598 |
14 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3565509 rs768846598 |
14 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs762041499 CA3565510 |
15 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs902437376 CA132235071 COSM1065955 |
15 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs769849764 CA3565511 |
18 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA362230799 rs1167279459 |
19 | S>N | No |
ClinGen gnomAD |
|
|
CA362230805 rs1380916895 |
20 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA362230804 rs1380916895 |
20 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA3565513 rs759191853 |
21 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA362230820 rs138167536 |
22 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3565515 rs138167536 |
22 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3565514 rs766852019 |
22 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs760020898 CA3565516 |
24 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3565517 rs760020898 |
24 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA132235184 rs753116034 |
24 | R>Q | No |
ClinGen gnomAD |
|
|
rs758742446 CA132235199 |
25 | A>D | No |
ClinGen Ensembl |
|
|
CA132235218 rs957749053 |
26 | N>D | No |
ClinGen TOPMed |
|
|
RCV000964996 rs17065105 CA3565518 VAR_051966 |
26 | N>S | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs370574015 CA3565519 |
29 | F>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA362230858 rs1229823498 |
29 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA362230857 rs1229823498 |
29 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs143416282 CA3565520 |
30 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222085983 CA362230874 |
31 | V>A | No |
ClinGen gnomAD |
|
|
rs1445850337 CA362230869 |
31 | V>I | No |
ClinGen Ensembl |
|
|
rs1381930894 CA362230876 |
32 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 33 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3565521 rs139206159 |
34 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372722448 CA3565522 |
35 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1232827498 CA362230898 |
35 | R>S | No |
ClinGen gnomAD |
|
|
rs1180092616 CA362230896 |
35 | R>T | No |
ClinGen gnomAD |
|
|
CA132235288 rs143217484 |
37 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA3565527 rs376235466 |
41 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3565525 rs147159476 |
41 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs267600557 CA3565528 |
42 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3565532 rs140420184 |
45 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140420184 CA3565531 |
45 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3565530 COSM233342 rs762989628 |
45 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs150808768 CA3565533 |
46 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs552176275 CA362230974 |
47 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552176275 CA3565536 |
47 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362230972 rs1282331507 |
47 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs552176275 CA3565535 |
47 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362230996 rs1298691381 |
50 | I>M | No |
ClinGen gnomAD |
|
|
CA362230992 rs1253205505 |
50 | I>V | No |
ClinGen TOPMed |
|
|
rs139064452 CA3565539 |
53 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362231078 rs1366853746 |
60 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs182791049 CA3565556 |
61 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3565557 rs182791049 |
61 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362231093 rs1370422948 |
63 | L>V | No |
ClinGen TOPMed |
|
|
rs761537464 CA3565558 |
64 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs867475021 CA362231126 |
67 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs142548892 CA3565561 |
68 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA132250261 rs756802917 |
71 | A>S | No |
ClinGen Ensembl |
|
|
CA3565562 rs766353252 |
71 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3565563 rs368781215 |
73 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1157879770 CA362231166 |
73 | Y>C | No |
ClinGen TOPMed |
|
|
rs1457670277 CA362231174 |
74 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1457670277 CA362231173 |
74 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA362231170 rs1428527101 |
74 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA132250272 rs888591861 |
75 | Y>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 77 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3565564 rs145100291 |
77 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362231200 rs1317985060 |
78 | A>G | No |
ClinGen gnomAD |
|
|
rs1250679587 CA362231197 |
78 | A>P | No |
ClinGen TOPMed |
|
|
rs781064949 CA3565565 |
80 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749414919 CA3565566 |
81 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA362231231 rs1581306282 |
83 | T>A | No |
ClinGen Ensembl |
|
|
rs757558060 CA3565567 |
83 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1229596810 CA362231239 |
84 | G>A | No |
ClinGen gnomAD |
|
|
rs1323479668 CA362231235 |
84 | G>S | No |
ClinGen gnomAD |
|
|
rs1270539988 CA362231254 |
86 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1270539988 CA362231253 |
86 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA132250295 rs1039897609 |
87 | M>I | No |
ClinGen Ensembl |
|
|
rs1349061617 CA362231280 |
90 | I>V | No |
ClinGen gnomAD |
|
|
rs139893508 CA3565568 |
93 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362231310 rs1267633062 |
94 | S>L | No |
ClinGen gnomAD |
|
|
CA362231315 rs1452912486 |
95 | A>T | No |
ClinGen gnomAD |
|
|
CA362231335 rs1196694250 |
98 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA132250313 rs900084373 |
99 | M>V | No |
ClinGen gnomAD |
|
|
rs910992355 CA132250318 |
101 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA362231377 rs1561668020 |
104 | T>A | No |
ClinGen Ensembl |
|
|
rs772689560 CA3565570 |
105 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA362231391 rs1452804400 |
106 | C>S | No |
ClinGen gnomAD |
|
|
CA362231408 rs1262852839 |
108 | M>T | No |
ClinGen TOPMed |
|
|
CA3565571 rs775904046 |
109 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA132250391 rs777055465 |
111 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301496145 CA362231429 |
111 | Y>C | No |
ClinGen gnomAD |
|
|
rs768841572 CA3565573 |
111 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA3565597 rs769920329 |
114 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201545749 CA3565600 |
115 | P>L | Variant assessed as Somatic; 0.0001403 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750628276 CA3565603 |
119 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs75528623 CA132251280 |
123 | I>V | No |
ClinGen Ensembl |
|
|
CA362231547 rs1450931984 |
127 | F>L | No |
ClinGen gnomAD |
|
|
rs143399385 CA3565605 |
128 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781741951 CA3565608 |
130 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3565607 rs117451706 |
130 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770094148 CA3565610 |
131 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778125251 CA3565611 |
132 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561668868 CA362231587 |
133 | Y>C | No |
ClinGen Ensembl |
|
|
rs1581308845 CA362231591 |
134 | T>A | No |
ClinGen Ensembl |
|
|
rs1202835608 CA362231614 |
137 | S>N | No |
ClinGen gnomAD |
|
|
CA362231625 rs1342116729 |
139 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 140 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362231638 rs1466073690 |
140 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs200875508 CA3565613 |
143 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362231659 rs1428056301 |
144 | V>D | No |
ClinGen gnomAD |
|
|
rs1294211938 CA362231689 |
146 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA362231699 rs1402897684 |
148 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3565643 rs759690393 |
149 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA362231721 rs184377169 |
151 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs559336070 CA3565647 |
152 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756601676 CA132252213 |
152 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA3565646 rs756601676 |
152 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3565648 rs754173774 |
153 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362231729 rs754173774 |
153 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362231737 rs1248940187 |
155 | T>A | No |
ClinGen gnomAD |
|
|
rs942163032 CA132252249 |
155 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3565650 rs779172640 |
156 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA362231741 rs1237541922 |
156 | T>P | No |
ClinGen TOPMed |
|
|
rs1308045708 CA362231751 |
157 | G>V | No |
ClinGen gnomAD |
|
|
CA362231752 rs1356241789 |
158 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3565651 rs374767128 COSM208187 |
159 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3565652 rs140942478 |
160 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1247879110 CA362231781 |
163 | L>P | No |
ClinGen gnomAD |
|
|
CA3565653 rs779694044 |
163 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1285550775 CA362231792 |
165 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3565654 rs150259495 |
166 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768680411 CA3565655 |
170 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA132252668 rs1043061649 |
171 | H>R | No |
ClinGen TOPMed |
|
|
CA3565673 rs780861914 |
171 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3565675 rs769688095 |
174 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470885767 CA362231913 |
175 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA362231914 rs1470885767 |
175 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1283890503 CA362231921 |
176 | I>M | No |
ClinGen gnomAD |
|
|
rs554635651 CA3565676 |
178 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs765588673 CA3565677 |
178 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA362231940 rs1435542478 |
180 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA362231941 rs1435542478 |
180 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3565678 rs772252341 |
184 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA132252689 rs772252341 |
184 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 184 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3565681 rs768668817 |
185 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760911338 CA3565680 |
185 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3565682 rs776581651 |
187 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA362231990 rs1261809777 |
188 | A>V | No |
ClinGen gnomAD |
|
|
rs762364611 CA3565683 |
189 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs765708084 CA3565684 |
190 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs894942282 CA132252709 |
191 | I>T | No |
ClinGen TOPMed |
|
|
rs1285916186 CA362232012 |
192 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 193 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3565685 rs750766302 |
194 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs763366687 CA3565686 COSM389543 |
196 | M>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA132253433 rs149484695 |
202 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149484695 CA3565706 |
202 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 203 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1392525583 CA362232127 |
206 | P>L | No |
ClinGen gnomAD |
|
|
CA362232124 rs1398538116 |
206 | P>S | No |
ClinGen gnomAD |
|
|
CA362232130 rs1581315478 |
207 | V>A | No |
ClinGen Ensembl |
|
|
CA3565710 rs200390050 |
207 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3565709 rs200390050 |
207 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552289806 CA3565711 |
208 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 209 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1361076036 CA362232139 |
209 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs753720909 CA3565713 |
211 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3565715 rs778679266 |
213 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA362232174 rs1201704038 |
214 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs143175347 CA3565716 |
214 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362232173 rs1201704038 |
214 | R>S | No |
ClinGen TOPMed |
|
|
rs781228529 CA3565718 |
216 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138497198 CA132253471 CA362232185 |
216 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs781228529 CA132253474 |
216 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3565719 rs748421606 |
217 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362232188 rs748421606 |
217 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3565720 rs769702628 |
218 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3565721 rs149270574 |
219 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs753529247 CA362232214 |
221 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3565724 rs753529247 |
221 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450077203 CA362232217 |
221 | A>V | No |
ClinGen gnomAD |
|
|
CA362232222 rs1469591827 |
222 | A>G | No |
ClinGen TOPMed |
|
|
rs767957784 CA3565726 |
223 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs550334284 CA3565727 |
226 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA132253555 rs550334284 |
226 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1664126 rs760390685 CA3565728 |
227 | T>M | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA362232260 rs1244795990 |
228 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA132253564 rs911838787 |
228 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs374796826 CA132253586 |
230 | V>I | No |
ClinGen ESP TOPMed |
|
|
CA132253592 rs939132400 |
231 | V>A | No |
ClinGen TOPMed |
|
|
rs753416789 CA3565730 |
231 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 232 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 233 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362232289 rs1220821816 |
233 | R>S | No |
ClinGen TOPMed |
|
|
CA132253607 rs764691791 |
234 | I>F | No |
ClinGen Ensembl |
|
|
CA362232298 rs1255724309 |
235 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1429215794 CA362232303 |
236 | M>V | No |
ClinGen gnomAD |
|
|
CA362232320 rs1448713425 |
238 | A>G | No |
ClinGen gnomAD |
|
|
CA362232317 rs1172539618 |
238 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA362232324 rs866735283 |
239 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs866735283 COSM3365984 CA132253612 |
239 | P>S | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1367503127 CA362232330 |
240 | G>D | No |
ClinGen TOPMed |
|
|
rs757177429 CA3565731 |
240 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs765194922 CA3565732 |
241 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362232334 rs765194922 |
241 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362232343 rs1408816566 |
242 | A>S | No |
ClinGen gnomAD |
|
|
rs778196355 CA132255418 |
242 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1337710183 CA362232369 |
244 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs946480266 CA132255426 |
245 | P>S | No |
ClinGen TOPMed |
|
|
rs1285133766 CA362232393 |
248 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA362232392 rs1285133766 |
248 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1337804097 CA362232417 |
251 | L>S | No |
ClinGen TOPMed |
|
|
CA362232416 rs1337804097 |
251 | L>W | No |
ClinGen TOPMed |
|
|
rs1581320734 CA362232430 |
253 | K>E | No |
ClinGen Ensembl |
|
|
rs1222705949 CA362232449 |
255 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 257 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761464814 CA3565769 |
261 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA132258168 rs991420975 |
262 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs560263804 CA3565771 |
264 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3565774 rs764391057 |
265 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762785906 CA3565772 |
265 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762785906 CA3565773 |
265 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA132258177 rs764391057 |
265 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3565776 rs767443925 |
266 | P>L | No |
ClinGen ExAC gnomAD |
|
|
VAR_051967 rs34907038 CA3565775 |
266 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA362232555 rs1439791748 |
269 | V>A | No |
ClinGen gnomAD |
|
|
CA362232560 rs141630104 |
270 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141630104 CA3565779 |
270 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3565778 rs757560082 |
270 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453699608 CA362232568 |
272 | V>I | No |
ClinGen gnomAD |
|
|
CA362232616 rs770378728 |
277 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3565795 rs770378728 |
277 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207782748 CA362232636 |
280 | T>A | No |
ClinGen TOPMed |
|
|
CA3565797 rs543601264 |
280 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362232642 rs1160686226 |
281 | P>S | No |
ClinGen gnomAD |
|
|
rs1265389758 CA362232654 |
283 | C>Y | No |
ClinGen TOPMed |
|
|
CA3565798 rs372316631 |
284 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775495631 CA3565799 |
285 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3565800 rs762116641 |
285 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs542634572 CA132258481 |
287 | F>L | No |
ClinGen Ensembl |
|
|
rs750443438 CA362232703 |
290 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 291 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745407656 CA3565835 |
293 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA362232734 rs1315881706 |
293 | M>T | No |
ClinGen TOPMed |
|
|
CA362232745 rs1471633968 |
295 | V>L | No |
ClinGen gnomAD |
|
|
rs200818665 CA132260274 |
296 | T>A | No |
ClinGen Ensembl |
|
|
CA3565837 rs542740389 |
300 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA132260288 rs769192280 |
301 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs769192280 CA132260294 |
301 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA362232812 rs1331235072 |
305 | K>* | No |
ClinGen gnomAD |
|
|
rs995140044 CA132260299 |
307 | Q>R | No |
ClinGen TOPMed |
|
|
rs771100203 CA3565844 |
309 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3565845 rs373321426 |
310 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1241919735 CA362232863 |
312 | E>A | No |
ClinGen gnomAD |
|
|
CA132260320 rs751399668 |
314 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs199976947 CA3565847 |
314 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3565848 rs565247710 |
315 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3565850 rs143516507 COSM1065957 |
315 | R>H | endometrium Variant assessed as Somatic; 0.0005543 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3565849 rs565247710 |
315 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756899909 CA3565852 COSM1672136 |
316 | V>M | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs778475439 CA3565853 |
319 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs778475439 CA362232905 |
319 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA132260342 rs1006242782 |
321 | G>A | No |
ClinGen TOPMed |
|
|
rs750119214 CA3565854 |
321 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q9H9B4
No regional properties for Q9H9B4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9H9B4 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of mitochondrial inner membrane | The component of the mitochondrial inner membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| L-alanine transmembrane transporter activity | Enables the transfer of L-alanine from one side of a membrane to the other. L-alanine is the L-enantiomer of 2-aminopropanoic acid. |
| L-serine transmembrane transporter activity | Enables the transfer of L-serine from one side of a membrane to the other. L-serine is the L-enantiomer of 2-amino-3-hydroxypropanoic acid. |
| serine transmembrane transporter activity | Enables the transfer of serine from one side of a membrane to the other. Serine is 2-amino-3-hydroxypropanoic acid. |
| transmembrane transporter activity | Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| erythrocyte differentiation | The process in which a myeloid precursor cell acquires specializes features of an erythrocyte. |
| iron ion transport | The directed movement of iron (Fe) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| L-alanine transport | The directed movement of L-alanine, the L-enantiomer of 2-aminopropanoic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| L-serine transport | The directed movement of L-serine, the L-enantiomer of 2-amino-3-hydroxypropanoic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| mitochondrial transmembrane transport | The process in which a solute is transported from one side of a membrane to the other into, out of or within a mitochondrion. |
| one-carbon metabolic process | The chemical reactions and pathways involving the transfer of one-carbon units in various oxidation states. |
| serine import into mitochondrion | The process in which serine is transported from the cytosol into the mitochondrial matrix. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5E9M8 | SFXN1 | Sideroflexin-1 | Bos taurus (Bovine) | PR |
| Q99JR1 | Sfxn1 | Sideroflexin-1 | Mus musculus (Mouse) | PR |
| A5A761 | SFXN1 | Sideroflexin-1 | Sus scrofa (Pig) | PR |
| Q63965 | Sfxn1 | Sideroflexin-1 | Rattus norvegicus (Rat) | PR |
| Q5FC79 | sfxn-5 | Sideroflexin-5 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSGELPPNIN | IKEPRWDQST | FIGRANHFFT | VTDPRNILLT | NEQLESARKI | VHDYRQGIVP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PGLTENELWR | AKYIYDSAFH | PDTGEKMILI | GRMSAQVPMN | MTITGCMMTF | YRTTPAVLFW |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QWINQSFNAV | VNYTNRSGDA | PLTVNELGTA | YVSATTGAVA | TALGLNALTK | HVSPLIGRFV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PFAAVAAANC | INIPLMRQRE | LKVGIPVTDE | NGNRLGESAN | AAKQAITQVV | VSRILMAAPG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MAIPPFIMNT | LEKKAFLKRF | PWMSAPIQVG | LVGFCLVFAT | PLCCALFPQK | SSMSVTSLEA |
| 310 | 320 | ||||
| ELQAKIQESH | PELRRVYFNK | GL |