Q3C1V8
Gene name |
BSX (BSX1) |
Protein name |
Brain-specific homeobox protein homolog |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:390259 |
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 Q3C1V8
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q3C1V8-F1 | Predicted | AlphaFoldDB |
220 variants for Q3C1V8
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA229933654 rs576258778 |
2 | N>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA383052101 rs1179625870 |
3 | L>F | No |
ClinGen gnomAD |
|
rs955475699 CA229933652 |
4 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA229933650 rs1029550213 |
8 | P>L | No |
ClinGen TOPMed |
|
CA383052068 rs1439418098 |
8 | P>S | No |
ClinGen gnomAD |
|
rs765193214 CA383052060 |
10 | H>N | No |
ClinGen ExAC gnomAD |
|
CA383052055 rs1184036619 |
10 | H>Q | No |
ClinGen TOPMed gnomAD |
|
rs765193214 CA6332261 |
10 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA6332260 rs62624971 |
11 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6332259 rs768854926 |
11 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768854926 CA6332258 |
11 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1016708679 CA229933642 |
12 | A>E | No |
ClinGen TOPMed |
|
rs757728928 CA229933644 |
12 | A>T | No |
ClinGen Ensembl |
|
rs772444026 CA6332255 |
16 | R>K | No |
ClinGen ExAC gnomAD |
|
rs1378432579 CA383052013 |
18 | T>A | No |
ClinGen gnomAD |
|
TCGA novel | 19 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA383051996 rs1300536241 |
20 | F>L | No |
ClinGen gnomAD |
|
rs1401359393 CA383051990 |
21 | F>S | No |
ClinGen gnomAD |
|
TCGA novel | 23 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA383051947 rs1167419308 |
27 | L>R | No |
ClinGen gnomAD |
|
CA6332249 rs752446127 |
30 | P>H | No |
ClinGen ExAC gnomAD |
|
rs752446127 CA6332248 |
30 | P>R | No |
ClinGen ExAC gnomAD |
|
CA383051925 rs1489291592 |
31 | K>E | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 32 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1216096022 CA383051912 |
33 | L>M | No |
ClinGen gnomAD |
|
rs1013887404 CA229933626 |
35 | E>D | No |
ClinGen TOPMed |
|
CA6332246 rs754833961 |
36 | V>G | No |
ClinGen ExAC gnomAD |
|
CA383051882 rs1266986766 |
37 | A>V | No |
ClinGen gnomAD |
|
CA383051879 rs1245297185 |
38 | P>S | No |
ClinGen gnomAD |
|
rs951758481 CA229933623 |
39 | D>E | No |
ClinGen TOPMed gnomAD |
|
rs1025941553 CA229933622 |
41 | F>L | No |
ClinGen gnomAD |
|
CA383051852 rs768056175 |
42 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs768056175 CA229933620 |
42 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs373485666 CA6332245 |
42 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 44 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA383051828 rs1188571521 |
46 | A>S | No |
ClinGen TOPMed gnomAD |
|
CA229933615 rs867300572 |
48 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA383051816 rs867300572 |
48 | R>P | No |
ClinGen TOPMed gnomAD |
|
CA383051817 rs1392515601 |
48 | R>W | No |
ClinGen gnomAD |
|
CA383051813 rs1458692731 |
49 | V>M | No |
ClinGen TOPMed gnomAD |
|
CA383051804 rs1282767803 |
50 | P>L | No |
ClinGen TOPMed |
|
CA6332242 rs776770866 |
50 | P>T | No |
ClinGen ExAC gnomAD |
|
rs760833595 CA6332240 |
55 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA383051776 rs760833595 |
55 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200026871 CA6332239 |
56 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA383051766 rs1591412259 |
56 | Y>F | No |
ClinGen Ensembl |
|
rs971109678 CA383051762 |
57 | P>H | No |
ClinGen TOPMed gnomAD |
|
rs971109678 CA229933607 |
57 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs772352727 CA383051763 |
57 | P>S | No |
ClinGen ExAC gnomAD |
|
rs772352727 CA6332238 |
57 | P>T | No |
ClinGen ExAC gnomAD |
|
CA383051760 rs746254703 |
58 | L>I | No |
ClinGen ExAC gnomAD |
|
rs774634223 CA6332236 |
58 | L>P | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 58 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6332237 rs746254703 |
58 | L>V | No |
ClinGen ExAC gnomAD |
|
rs771464195 CA6332235 |
59 | M>I | No |
ClinGen ExAC gnomAD |
|
rs1263460514 CA383051752 |
59 | M>T | No |
ClinGen gnomAD |
|
rs1206981683 CA383051743 |
60 | P>L | No |
ClinGen TOPMed |
|
CA383051737 rs1318588912 |
61 | T>I | No |
ClinGen gnomAD |
|
CA383051739 rs1318588912 |
61 | T>K | No |
ClinGen gnomAD |
|
rs749798967 CA6332234 COSM3720991 |
62 | P>H | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs749798967 CA383051732 |
62 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1277012025 CA383051734 |
62 | P>S | No |
ClinGen gnomAD |
|
rs1591412238 CA383051730 |
63 | T>A | No |
ClinGen Ensembl |
|
rs1332439935 CA383051726 |
63 | T>N | No |
ClinGen gnomAD |
|
CA383051725 rs1301494761 |
64 | L>I | No |
ClinGen gnomAD |
|
CA229933599 rs867242555 |
66 | A>D | No |
ClinGen gnomAD |
|
rs199643758 CA6332233 |
66 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA383051709 rs867242555 |
66 | A>V | No |
ClinGen gnomAD |
|
CA383051701 rs1324370038 |
68 | H>D | No |
ClinGen gnomAD |
|
CA6332231 rs372663917 |
68 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA229933594 rs1012698643 |
69 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA383051686 rs1474440435 |
70 | H>R | No |
ClinGen gnomAD |
|
rs913951255 CA229933589 |
77 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs780996854 CA6332229 |
78 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs1341636588 CA383051623 |
79 | H>R | No |
ClinGen TOPMed gnomAD |
|
rs1275457879 CA383051614 |
80 | H>L | No |
ClinGen gnomAD |
|
CA383051617 rs1200374244 |
80 | H>Y | No |
ClinGen gnomAD |
|
rs1054734813 CA229933586 |
81 | P>H | No |
ClinGen Ensembl |
|
COSM924143 rs868246509 CA229933584 |
87 | S>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
rs769363288 | 88 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs1373728995 CA383051552 |
88 | G>E | No |
ClinGen gnomAD |
|
TCGA novel | 89 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA229933175 rs531543505 |
89 | M>V | No |
ClinGen 1000Genomes |
|
CA6332212 rs747676261 |
90 | P>L | No |
ClinGen ExAC gnomAD |
|
CA6332211 rs780910505 |
91 | V>A | No |
ClinGen ExAC gnomAD |
|
CA6332209 rs746684796 |
92 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779880586 CA6332208 |
93 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779880586 CA383051523 |
93 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 93 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs750290566 CA6332206 |
95 | F>L | No |
ClinGen ExAC gnomAD |
|
CA383051496 rs1216809676 |
97 | H>N | No |
ClinGen gnomAD |
|
CA6332205 rs757240710 |
97 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6332203 rs552397073 |
98 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1285248435 CA383051468 |
99 | Q>R | No |
ClinGen gnomAD |
|
CA229933163 rs527625117 |
100 | H>Q | No |
ClinGen 1000Genomes gnomAD |
|
CA383051441 rs1353583094 |
101 | A>S | No |
ClinGen gnomAD |
|
TCGA novel | 101 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs759781325 CA6332201 |
102 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759781325 CA229933160 |
102 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6332200 rs751751270 |
102 | E>V | No |
ClinGen ExAC gnomAD |
|
rs1360180060 CA383051424 |
103 | L>M | No |
ClinGen gnomAD |
|
CA383051406 rs1406829322 |
104 | P>R | No |
ClinGen gnomAD |
|
CA383051374 rs1162515428 |
106 | K>N | No |
ClinGen gnomAD |
|
rs371977061 CA6332198 |
107 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs773804908 CA6332197 |
107 | H>R | No |
ClinGen ExAC gnomAD |
|
CA383051335 rs1482864599 |
109 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs560461493 CA6332195 |
109 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs560461493 CA6332196 |
109 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA383051342 rs1482864599 |
109 | R>S | No |
ClinGen TOPMed gnomAD |
|
CA6332194 rs776273119 |
110 | R>S | No |
ClinGen ExAC gnomAD |
|
rs867818183 CA229933147 |
111 | R>H | No |
ClinGen Ensembl |
|
rs768105541 CA6332193 |
114 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768105541 CA383051269 |
114 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1223340807 CA383051262 |
115 | T>M | No |
ClinGen gnomAD |
|
CA229933145 rs368119965 |
118 | S>Y | No |
ClinGen ESP TOPMed |
|
CA6332192 rs375774927 |
119 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6332191 rs775040824 |
120 | S>L | No |
ClinGen ExAC gnomAD |
|
rs778722255 CA6332188 |
126 | E>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 126 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1268600726 CA383051117 |
127 | K>M | No |
ClinGen gnomAD |
|
rs1438885382 CA383051100 |
128 | R>S | No |
ClinGen gnomAD |
|
rs1350191897 CA383051086 |
129 | F>L | No |
ClinGen gnomAD |
|
TCGA novel | 130 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs757183629 CA6332187 |
131 | I>N | No |
ClinGen ExAC gnomAD |
|
rs368494973 CA229933138 |
131 | I>V | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
COSM1185004 rs1379770999 CA383051041 |
133 | R>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
CA383051039 rs1466704692 COSM202724 |
133 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
COSM686784 rs1477179313 CA383050988 |
137 | T>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
TCGA novel | 139 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs755017837 CA6332184 |
140 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
TCGA novel | 141 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6332183 rs751764889 |
141 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 143 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 143 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6332182 rs766532036 |
143 | L>V | No |
ClinGen ExAC gnomAD |
|
CA6332181 rs758741098 |
145 | T>K | No |
ClinGen ExAC gnomAD |
|
rs568625630 CA229933125 |
150 | S>F | No |
ClinGen gnomAD |
|
CA6332178 rs762392801 |
152 | T>M | No |
ClinGen ExAC gnomAD |
|
CA6332157 rs375711614 |
157 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1282363649 CA383050740 |
158 | F>L | No |
ClinGen TOPMed |
|
rs1310626813 CA383050746 |
158 | F>L | No |
ClinGen gnomAD |
|
CA383050737 rs1421153785 |
159 | Q>* | No |
ClinGen gnomAD |
|
rs1159698686 CA383050721 |
161 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA383050722 rs1382544218 |
161 | R>W | No |
ClinGen gnomAD |
|
CA383050717 rs1357349355 COSM1352093 |
162 | R>W | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
TCGA novel | 163 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6332154 rs773997887 |
168 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA6332155 rs759132794 |
168 | Q>P | No |
ClinGen ExAC gnomAD |
|
CA6332153 rs770672530 |
170 | R>L | No |
ClinGen ExAC gnomAD |
|
CA383050641 rs1208925987 |
173 | Q>* | No |
ClinGen gnomAD |
|
CA6332152 rs201802674 |
173 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs769586039 CA383050630 CA6332150 |
174 | D>E | No |
ClinGen ExAC gnomAD |
|
CA229932794 rs779549267 |
174 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779549267 CA6332151 |
174 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA383050600 rs1405895704 |
178 | A>G | No |
ClinGen gnomAD |
|
CA6332149 rs748182063 |
178 | A>T | No |
ClinGen ExAC gnomAD |
|
rs779981498 CA6332148 |
179 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA383050577 rs138024906 |
180 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1310608194 CA383050565 |
181 | G>A | No |
ClinGen gnomAD |
|
rs746016226 CA6332146 |
181 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA383050570 rs746016226 |
181 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1401456769 CA383050559 |
182 | P>S | No |
ClinGen gnomAD |
|
rs373020747 CA6332145 |
183 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA383050533 rs1289794346 |
184 | S>N | No |
ClinGen gnomAD |
|
rs771510552 CA229932779 |
184 | S>R | No |
ClinGen Ensembl |
|
CA6332141 rs756568088 |
186 | E>G | No |
ClinGen ExAC gnomAD |
|
rs778269524 CA6332142 |
186 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA383050492 rs1472122264 |
187 | G>A | No |
ClinGen TOPMed gnomAD |
|
CA383050487 rs1565347550 |
188 | S>G | No |
ClinGen Ensembl |
|
CA6332138 rs766948506 |
188 | S>I | No |
ClinGen ExAC gnomAD |
|
rs766948506 CA6332139 |
188 | S>N | No |
ClinGen ExAC gnomAD |
|
rs759077853 CA383050475 |
188 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6332135 rs765993014 |
189 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751163059 CA6332136 |
189 | P>S | No |
ClinGen ExAC gnomAD |
|
rs759317554 | 190 | R>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs1009896463 CA229932764 |
190 | R>G | No |
ClinGen Ensembl |
|
rs1565347536 CA383050458 |
190 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA6332133 rs772877086 |
191 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA383050448 rs1591410578 |
191 | G>D | No |
ClinGen Ensembl |
|
CA6332132 rs772877086 |
191 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA383050415 rs1267007568 |
193 | E>D | No |
ClinGen gnomAD |
|
rs761594912 CA383050400 |
195 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761594912 CA6332130 |
195 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1219988058 CA383050380 |
196 | T>I | No |
ClinGen gnomAD |
|
CA229932755 rs11601189 |
196 | T>P | No |
ClinGen gnomAD |
|
CA229932749 rs1018888705 |
197 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1360235106 CA383050362 |
198 | A>S | No |
ClinGen gnomAD |
|
rs889133735 CA6332127 |
199 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA383050345 rs1295711287 |
199 | E>V | No |
ClinGen gnomAD |
|
rs991747229 CA229932743 |
201 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA6332125 rs199952953 |
203 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs779177549 CA6332124 |
204 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6332123 rs771057177 |
206 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749585711 CA6332122 |
207 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749585711 CA383050260 |
207 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel CA383050268 rs1591410536 |
207 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
rs1191596426 CA383050213 |
211 | L>M | No |
ClinGen gnomAD |
|
CA383050195 rs1467958276 |
212 | T>I | No |
ClinGen gnomAD |
|
rs755527912 CA6332117 |
214 | P>A | No |
ClinGen ExAC gnomAD |
|
rs1222330297 CA383050177 |
214 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs751038152 CA6332116 |
216 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765939808 CA6332115 |
217 | E>* | No |
ClinGen ExAC gnomAD |
|
CA383050123 rs1332527279 |
218 | V>L | No |
ClinGen gnomAD |
|
CA383050094 rs1303835573 |
220 | I>F | No |
ClinGen TOPMed gnomAD |
|
CA383050098 rs1303835573 |
220 | I>L | No |
ClinGen TOPMed gnomAD |
|
CA383050090 rs1442040239 |
220 | I>T | No |
ClinGen gnomAD |
|
CA6332112 rs750101490 |
221 | G>A | No |
ClinGen ExAC gnomAD |
|
CA383050075 rs1208540196 |
221 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs764871812 CA6332111 |
223 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776621311 CA6332109 |
224 | G>A | No |
ClinGen ExAC gnomAD |
|
rs1460631990 CA383050036 |
224 | G>R | No |
ClinGen gnomAD |
|
CA383050023 rs1174520206 |
225 | E>Q | No |
ClinGen gnomAD |
|
TCGA novel | 225 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6332108 rs764094953 |
226 | L>P | No |
ClinGen ExAC gnomAD |
|
rs760764887 CA6332107 |
227 | G>D | No |
ClinGen ExAC gnomAD |
|
CA6332104 RCV000947395 rs61737277 |
231 | H>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6332103 rs199711565 |
232 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA383049959 rs199711565 |
232 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 233 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA383049954 rs1346537386 |
233 | L>I | No |
ClinGen gnomAD |
No associated diseases with Q3C1V8
4 regional properties for Q3C1V8
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Homeobox domain | 108 - 172 | IPR001356 |
conserved_site | Homeobox, conserved site | 143 - 166 | IPR017970 |
domain | Homeobox domain, metazoa | 132 - 143 | IPR020479-1 |
domain | Homeobox domain, metazoa | 147 - 166 | IPR020479-2 |
3 GO annotations of cellular component
Name | Definition |
---|---|
chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
transcription regulator complex | A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription. |
3 GO annotations of molecular function
Name | Definition |
---|---|
DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
sequence-specific double-stranded DNA binding | Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. |
5 GO annotations of biological process
Name | Definition |
---|---|
eating behavior | The specific behavior of an organism relating to the intake of food, any substance (usually solid) that can be metabolized by an organism to give energy and build tissue. |
locomotory behavior | The specific movement from place to place of an organism in response to external or internal stimuli. Locomotion of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions. |
mammary gland involution | The tissue remodeling that removes differentiated mammary epithelia during weaning. |
positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
7 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q6RFL5 | BSX | Brain-specific homeobox protein homolog | Gallus gallus (Chicken) | PR |
O60479 | DLX3 | Homeobox protein DLX-3 | Homo sapiens (Human) | PR |
P56179 | DLX6 | Homeobox protein DLX-6 | Homo sapiens (Human) | PR |
Q9HBU1 | BARX1 | Homeobox protein BarH-like 1 | Homo sapiens (Human) | PR |
Q9UMQ3 | BARX2 | Homeobox protein BarH-like 2 | Homo sapiens (Human) | PR |
Q810B3 | Bsx | Brain-specific homeobox protein homolog | Mus musculus (Mouse) | PR |
Q9ER42 | Barx1 | Homeobox protein BarH-like 1 | Mus musculus (Mouse) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MNLNFTSPLH | PASSQRPTSF | FIEDILLHKP | KPLREVAPDH | FASSLASRVP | LLDYGYPLMP |
70 | 80 | 90 | 100 | 110 | 120 |
TPTLLAPHAH | HPLHKGDHHH | PYFLTTSGMP | VPALFPHPQH | AELPGKHCRR | RKARTVFSDS |
130 | 140 | 150 | 160 | 170 | 180 |
QLSGLEKRFE | IQRYLSTPER | VELATALSLS | ETQVKTWFQN | RRMKHKKQLR | KSQDEPKAPD |
190 | 200 | 210 | 220 | 230 | |
GPESPEGSPR | GSEAATAAEA | RLSLPAGPFV | LTEPEDEVDI | GDEGELGSGP | HVL |