O95343
PR
Gene name |
SIX3 |
Protein name |
Homeobox protein SIX3 |
Names |
Sine oculis homeobox homolog 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6496 |
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 O95343
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O95343-F1 | Predicted | AlphaFoldDB |
281 variants for O95343
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA346798781 rs551637040 RCV000686110 |
18 | N>Y | Holoprosencephaly 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
rs200575650 RCV002536789 CA1642246 |
20 | A>S | Holoprosencephaly 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000171135 CA129166 rs199823175 RCV000023331 RCV000023330 RCV000173372 VAR_071335 RCV000713302 |
37 | G>C | Holoprosencephaly 2 (hpe2) Schizencephaly Holoprosencephaly 2 Solitary median maxillary central incisor syndrome SCHZC and HPE2 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000594169 CA346798933 rs1436891421 RCV000764416 |
43 | G>C | Holoprosencephaly 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1344650194 RCV000656534 CA346799012 |
57 | G>C | Holoprosencephaly 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000173374 RCV002054049 rs555285206 |
69 | G>missing | Holoprosencephaly 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000006470 RCV002476256 CA253772 RCV000812876 rs121917881 VAR_038418 |
69 | G>D | Holoprosencephaly 2 (hpe2) Holoprosencephaly 2 HPE2 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1314811261 CA346799084 RCV001197116 |
70 | S>P | Schizencephaly [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
| VAR_071336 | 79 | M>V | HPE2 [UniProt] | Yes | UniProt |
| VAR_023797 | 92 | V>G | HPE2 [UniProt] | Yes | UniProt |
| VAR_071337 | 93 | A>D | HPE2 [UniProt] | Yes | UniProt |
| VAR_023798 | 105 | I>V | HPE2 [UniProt] | Yes | UniProt |
|
VAR_071338 RCV000506131 CA253773 rs137853021 RCV000006472 |
113 | W>C | Holoprosencephaly 2 (hpe2) Holoprosencephaly 2 HPE2 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1572624000 CA346799361 RCV000822509 |
113 | W>S | Holoprosencephaly 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_071339 | 114 | S>L | HPE2 [UniProt] | Yes | UniProt |
|
rs387906867 CA129164 RCV000023328 RCV000023329 |
129 | E>* | Holoprosencephaly 2 (hpe2) Schizencephaly Holoprosencephaly 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs753473749 RCV002248753 RCV000520730 |
136 | A>missing | Holoprosencephaly 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs753473749 RCV000006470 RCV002263814 |
137 | V>missing | Holoprosencephaly 2 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_071340 | 138 | V>D | HPE2 [UniProt] | Yes | UniProt |
|
rs1553337688 RCV000656533 |
148 | L>missing | Holoprosencephaly 2 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_071341 | 155 | H>del | HPE2 [UniProt] | Yes | UniProt |
| VAR_071342 | 157 | F>I | HPE2 [UniProt] | Yes | UniProt |
|
RCV000023332 CA129168 VAR_071343 RCV002247383 rs387906868 |
167 | A>S | Schizencephaly SCHZC [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000702708 CA346799737 rs1558420022 |
169 | W>* | Holoprosencephaly 2 (hpe2) Variant assessed as Somatic; impact. Holoprosencephaly 2 [Ensembl, NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
| VAR_071344 | 172 | A>V | HPE2 [UniProt] | Yes | UniProt |
| VAR_023799 | 173 | H>P | HPE2 [UniProt] | Yes | UniProt |
| VAR_071345 | 174 | Y>H | HPE2 [UniProt] | Yes | UniProt |
|
rs1572624159 RCV000006469 |
187 | P>missing | Holoprosencephaly 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001270879 rs1666605262 |
194 | R>P | Holoprosencephaly 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002534268 CA346799948 rs1553337714 RCV000658046 |
201 | R>H | Variant assessed as Somatic; impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
| VAR_023800 | 202 | T>I | HPE2 [UniProt] | Yes | UniProt |
|
rs886044000 RCV002518053 RCV000269190 CA10606212 |
205 | D>H | Holoprosencephaly 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
| VAR_071346 | 213 | F>V | HPE2 [UniProt] | Yes | UniProt |
| VAR_071347 | 218 | R>P | HPE2 [UniProt] | Yes | UniProt |
| VAR_071348 | 218 | R>W | HPE2 [UniProt] | Yes | UniProt |
|
rs121917878 CA340519 VAR_003771 RCV000006466 |
226 | L>V | Holoprosencephaly 2 (hpe2) Holoprosencephaly 2 HPE2 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_071349 | 227 | Q>P | HPE2 [UniProt] | Yes | UniProt |
| VAR_023801 | 231 | P>R | HPE2 [UniProt] | Yes | UniProt |
|
RCV000055688 rs397515502 |
232 | N>missing | Holoprosencephaly 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA47011060 VAR_071350 rs989286015 |
244 | G>C | HPE2 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA340521 rs121917880 RCV000006468 VAR_003772 |
250 | V>A | Holoprosencephaly 2 (hpe2) Holoprosencephaly 2 HPE2; Significantly decreased its ability to activate NR4A3 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_071351 | 254 | F>L | HPE2 [UniProt] | Yes | UniProt |
| VAR_071352 | 257 | R>G | HPE2 [UniProt] | Yes | UniProt |
|
RCV000006467 VAR_003773 CA340520 rs121917879 |
257 | R>P | Holoprosencephaly 2 (hpe2) Holoprosencephaly 2 HPE2; Significantly decreased interaction with NR4A3; Significantly decreased its ability to activate NR4A3 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_023802 | 257 | R>W | HPE2 [UniProt] | Yes | UniProt |
| VAR_071353 | 258 | R>L | HPE2 [UniProt] | Yes | UniProt |
| VAR_071354 | 262 | R>H | HPE2 [UniProt] | Yes | UniProt |
| VAR_071355 | 269 | R>M | HPE2 [UniProt] | Yes | UniProt |
| VAR_071356 | 269 | R>S | HPE2 [UniProt] | Yes | UniProt |
| VAR_071357 | 269 | R>T | HPE2 [UniProt] | Yes | UniProt |
|
rs377320521 CA1642395 COSM1738810 RCV000514708 RCV002060221 |
275 | I>T | Holoprosencephaly 2 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs575632344 CA1642397 RCV002066387 |
277 | P>Q | Holoprosencephaly 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000639734 rs751280287 CA1642410 |
296 | S>W | Holoprosencephaly 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_071358 rs780942050 CA1642412 |
297 | P>L | HPE2 [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA1642418 RCV001394388 rs201922529 RCV000354705 |
316 | T>I | Holoprosencephaly 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs199795275 RCV001037917 CA1642421 |
321 | L>F | Holoprosencephaly 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000599004 rs1553337590 |
1 | M>V | No |
ClinVar dbSNP |
|
|
CA1642230 rs766767053 |
2 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA1642232 rs775115929 |
5 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs775115929 CA346798704 |
5 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1572623586 CA346798702 |
5 | S>P | No |
ClinGen Ensembl |
|
|
rs775115929 CA1642231 |
5 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs528794855 CA1642234 |
6 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs528794855 CA346798708 |
6 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 7 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1490771348 CA346798710 |
7 | L>I | No |
ClinGen gnomAD |
|
|
rs756113841 CA1642238 |
8 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA346798725 rs1479578284 |
9 | L>P | No |
ClinGen gnomAD |
|
|
rs779829905 CA1642239 |
9 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1642240 rs749405556 |
12 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1410141912 CA346798751 |
13 | H>R | No |
ClinGen TOPMed |
|
|
rs1443510881 CA346798748 |
13 | H>Y | No |
ClinGen gnomAD |
|
|
rs748430037 CA1642243 |
14 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA346798760 TCGA novel rs772181424 |
14 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
rs773668631 CA1642245 |
15 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs551637040 CA47011033 |
18 | N>D | No |
ClinGen 1000Genomes TOPMed |
|
|
CA47011034 COSM1021108 rs199595730 |
18 | N>K | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA1642249 rs537643024 |
21 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs968579804 CA47011035 |
24 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA346798829 rs1269327293 |
25 | R>C | No |
ClinGen TOPMed |
|
|
rs761622084 CA1642252 |
27 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1305570509 CA346798842 |
27 | I>T | No |
ClinGen gnomAD |
|
|
CA1642251 rs773982749 |
27 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs181010373 CA1642254 |
29 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs536278475 CA47011036 |
31 | S>R | No |
ClinGen 1000Genomes |
|
|
rs753721024 CA346798876 |
33 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1642258 rs754899804 |
33 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs753721024 CA1642257 |
33 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM301316 CA346798880 rs1401728465 |
34 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA47011037 CA47011038 rs1018692851 |
35 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs777810054 CA1642263 |
38 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA346798926 rs1216159686 |
42 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs920270639 CA47011039 |
45 | G>E | No |
ClinGen TOPMed |
|
|
rs771134581 CA1642267 |
48 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA346798970 rs1264399264 |
49 | G>D | No |
ClinGen gnomAD |
|
|
CA346798974 rs1191977510 |
50 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA346798973 rs1191977510 |
50 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1642268 rs777289787 |
50 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA1642270 rs770418171 |
51 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA346798978 rs558809633 CA47011041 |
51 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1642269 rs558809633 |
51 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771774953 CA1642273 |
53 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA346798990 rs761202592 |
53 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1642272 rs761202592 |
53 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321033933 CA346798996 |
54 | A>E | No |
ClinGen TOPMed |
|
|
CA1642274 rs772677168 |
55 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346799000 rs1386445319 |
55 | G>R | No |
ClinGen TOPMed |
|
|
rs753628024 CA1642277 |
58 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346799033 rs575387114 |
61 | G>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1281686738 CA346799035 |
61 | G>E | No |
ClinGen gnomAD |
|
|
CA1642279 rs575387114 |
61 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1448442591 CA346799038 |
62 | A>T | No |
ClinGen gnomAD |
|
|
rs1216076593 CA346799047 |
63 | G>A | No |
ClinGen gnomAD |
|
|
CA346799048 rs1216076593 |
63 | G>D | No |
ClinGen gnomAD |
|
|
rs752797098 CA1642283 |
64 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 65 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1642285 rs778060809 |
66 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346799091 rs1382884542 |
71 | R>K | No |
ClinGen gnomAD |
|
|
CA346799095 rs1402606672 |
71 | R>S | No |
ClinGen gnomAD |
|
|
CA346799097 rs757487016 |
72 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs757487016 CA1642288 |
72 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs781731500 CA1642289 |
72 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs889069929 CA47011044 |
73 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs889069929 CA346799100 |
73 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1642294 rs771429347 |
74 | P>L | Holoprosencephaly 2 (hpe2) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771429347 CA346799107 |
74 | P>Q | Holoprosencephaly 2 (hpe2) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771429347 CA1642293 |
74 | P>R | Holoprosencephaly 2 (hpe2) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
| rs760462666 | 74 | P>R | Variant assessed as Somatic; 9.304e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747721596 CA1642292 |
74 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs760315707 CA1642295 |
76 | E>* | No |
ClinGen ExAC |
|
|
CA1642297 rs776461044 |
76 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1642296 rs770543339 |
76 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA47011045 rs893527638 |
77 | L>V | No |
ClinGen gnomAD |
|
|
CA346799130 rs1290628704 |
78 | S>F | No |
ClinGen gnomAD |
|
|
CA1642298 rs759280002 |
80 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA346799171 rs1572623929 |
84 | T>I | No |
ClinGen Ensembl |
|
|
CA47011046 rs1009742652 |
84 | T>P | No |
ClinGen Ensembl |
|
|
rs763108303 CA1642301 |
85 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs533412798 CA1642302 |
88 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1042560926 CA47011047 |
93 | A>P | No |
ClinGen Ensembl |
|
| TCGA novel | 93 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751652441 CA1642303 |
93 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs111843284 CA47011048 |
94 | S>T | No |
ClinGen Ensembl |
|
|
CA346799249 RCV000578945 rs1553337648 |
96 | C>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1642304 rs757457966 |
96 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA346799264 rs1304803510 |
98 | T>M | No |
ClinGen gnomAD |
|
|
rs1326804162 CA346799293 |
103 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA346799298 rs1197341218 |
104 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA346799319 rs1336980946 |
106 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1267045983 CA346799340 |
110 | R>H | No |
ClinGen TOPMed |
|
|
rs1267545533 CA346799383 |
117 | V>L | No |
ClinGen gnomAD |
|
|
rs1572624021 CA346799405 |
120 | G>V | No |
ClinGen Ensembl |
|
|
RCV000351427 rs886041560 |
121 | A>missing | No |
ClinVar dbSNP |
|
|
rs1195691730 CA346799411 |
121 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1195691730 CA346799410 |
121 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs746508020 CA1642312 |
123 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1242759851 CA346799427 |
124 | A>T | No |
ClinGen gnomAD |
|
|
rs372100479 CA47011053 |
127 | K>Q | No |
ClinGen ESP |
|
| TCGA novel | 132 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs914092830 CA47011055 |
133 | R>S | No |
ClinGen TOPMed |
|
|
CA346799496 rs1335408489 |
134 | A>G | No |
ClinGen gnomAD |
|
|
CA1642318 rs775341543 |
134 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1379956535 CA346799499 |
135 | R>G | No |
ClinGen gnomAD |
|
|
CA1642319 rs762864110 |
136 | A>S | No |
ClinGen ExAC |
|
| TCGA novel | 137 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001268497 rs1666602075 |
140 | F>S | No |
ClinVar dbSNP |
|
|
rs1250116628 CA346799547 |
142 | T>M | No |
ClinGen gnomAD |
|
|
rs761932777 CA1642322 |
143 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1460056891 CA346799555 |
144 | N>D | No |
ClinGen gnomAD |
|
|
CA1642325 rs756395470 |
146 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1642326 rs766724439 |
146 | R>L | No |
ClinGen ExAC |
|
|
CA346799570 rs756395470 |
146 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427686682 CA346799574 |
147 | D>N | No |
ClinGen gnomAD |
|
|
CA1642327 rs754202682 |
148 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 149 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346799604 rs1403214451 |
151 | I>V | No |
ClinGen gnomAD |
|
|
rs1303045479 CA346799645 |
156 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 160 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346799690 rs746533848 |
162 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs756689465 CA1642331 |
163 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs756689465 CA346799696 |
163 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 167 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1642332 rs745577214 |
167 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 168 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769431310 CA1642333 |
171 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 172 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768497950 CA47011057 |
177 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs768497950 CA1642335 |
177 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1434383417 CA346799819 |
181 | R>H | No |
ClinGen gnomAD |
|
|
rs1176239877 CA346799822 |
182 | G>C | No |
ClinGen gnomAD |
|
|
rs1362713577 CA346799837 |
184 | P>L | No |
ClinGen gnomAD |
|
|
rs773424856 CA1642339 |
186 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs773424856 CA346799846 |
186 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1642340 rs761021058 |
187 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1221436387 CA346799867 |
189 | D>G | No |
ClinGen gnomAD |
|
|
CA346799893 rs1288474418 |
193 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1157864629 CA346799917 |
196 | K>M | No |
ClinGen TOPMed |
|
|
CA346799931 rs1221543535 |
198 | P>L | No |
ClinGen gnomAD |
|
|
rs1380586263 CA346799994 |
208 | Q>K | No |
ClinGen gnomAD |
|
|
rs780746878 CA1642346 |
210 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs779704824 CA1642349 |
214 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1642351 rs768427864 |
216 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1389795579 CA346800063 |
217 | T>I | No |
ClinGen gnomAD |
|
|
CA346800066 rs1311723501 |
218 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1572624235 CA346800071 |
219 | S>C | No |
ClinGen Ensembl |
|
|
CA1642355 rs748952099 |
222 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346800154 rs1479362407 |
231 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 234 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1642361 rs753054738 COSM3709666 |
238 | E>K | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs763491194 CA1642362 |
239 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1412023322 CA346800217 |
240 | A>V | No |
ClinGen gnomAD |
|
|
rs1572624276 CA346800232 |
242 | A>G | No |
ClinGen Ensembl |
|
|
rs966396323 CA47011062 |
248 | T>I | No |
ClinGen gnomAD |
|
|
CA346800322 rs1572624301 |
256 | N>T | No |
ClinGen Ensembl |
|
|
rs1085307513 RCV000489818 CA346800343 |
259 | Q>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1228726729 COSM3380166 CA346800346 |
260 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 264 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346800382 rs1460508805 |
266 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 267 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346800424 rs906435288 |
270 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs906435288 CA47011269 |
270 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA346800436 rs1344878849 |
272 | H>N | No |
ClinGen gnomAD |
|
|
CA346800438 rs1344878849 |
272 | H>Y | No |
ClinGen gnomAD |
|
|
CA1642394 rs373028825 |
275 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346800466 rs1345139300 |
276 | G>E | No |
ClinGen gnomAD |
|
|
rs575632344 CA346800473 |
277 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346800477 rs1219329090 |
278 | S>N | No |
ClinGen gnomAD |
|
|
CA346800484 rs1264530554 |
279 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA346800495 rs1275748806 |
280 | M>I | No |
ClinGen TOPMed |
|
|
rs1197394985 CA346800499 |
281 | R>C | No |
ClinGen gnomAD |
|
|
rs774682149 CA346800501 |
281 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1642401 rs774682149 |
281 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197394985 CA346800498 |
281 | R>S | No |
ClinGen gnomAD |
|
|
rs1378761400 CA346800511 |
283 | L>P | No |
ClinGen gnomAD |
|
|
rs776232356 CA346800515 |
284 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776232356 CA1642404 |
284 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1642403 rs767891049 |
284 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767891049 CA346800513 |
284 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758933447 CA1642406 |
285 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346800517 rs1384959715 |
285 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1306618159 CA346800533 |
287 | G>D | No |
ClinGen gnomAD |
|
|
CA346800530 rs1440905862 |
287 | G>S | No |
ClinGen gnomAD |
|
|
rs1355497595 CA346800536 |
288 | C>R | No |
ClinGen gnomAD |
|
|
rs1240433838 CA346800539 |
288 | C>Y | No |
ClinGen gnomAD |
|
|
CA346800549 rs1287126535 |
289 | P>L | No |
ClinGen gnomAD |
|
|
CA346800544 rs1357166419 |
289 | P>T | No |
ClinGen TOPMed |
|
|
rs1460399712 CA346800553 |
290 | T>K | No |
ClinGen gnomAD |
|
|
CA346800568 rs1330614232 |
292 | G>V | No |
ClinGen TOPMed |
|
|
rs1017986805 CA47011271 |
293 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1452238062 CA346800575 |
294 | A>T | No |
ClinGen gnomAD |
|
|
rs751280287 CA1642411 |
296 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346800605 rs1327124268 |
299 | T>A | No |
ClinGen Ensembl |
|
|
rs1456236951 CA346800618 |
301 | A>T | No |
ClinGen gnomAD |
|
|
rs1013477405 CA47011273 |
301 | A>V | No |
ClinGen Ensembl |
|
|
CA346800634 rs1391438380 |
303 | P>L | No |
ClinGen gnomAD |
|
|
CA346800633 rs1391438380 |
303 | P>R | No |
ClinGen gnomAD |
|
|
CA346800639 rs1328765266 |
304 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA346800640 rs1328765266 |
304 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1642417 rs768858748 |
308 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA346800668 rs1242996743 |
309 | S>G | No |
ClinGen gnomAD |
|
|
rs1286475473 CA346800684 |
311 | T>K | No |
ClinGen gnomAD |
|
|
rs1286475473 CA346800682 |
311 | T>M | No |
ClinGen gnomAD |
|
|
rs1234997319 CA346800679 |
311 | T>P | No |
ClinGen TOPMed |
|
|
CA346800687 rs1198557011 |
312 | E>* | No |
ClinGen gnomAD |
|
|
rs1256290558 CA346800696 |
313 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 314 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346800704 COSM300499 rs1459121699 |
314 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1242705846 CA346800705 |
315 | D>N | No |
ClinGen gnomAD |
|
|
rs1368822738 CA346800722 |
317 | G>A | No |
ClinGen gnomAD |
|
|
rs1168416233 CA346800734 |
319 | S>F | No |
ClinGen gnomAD |
|
|
rs370063753 CA1642419 |
320 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199795275 CA346800742 |
321 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199795275 CA1642420 |
321 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs867552132 CA47011275 |
322 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs909085152 CA346800761 |
324 | T>I | No |
ClinGen gnomAD |
|
|
CA47011276 rs909085152 |
324 | T>N | No |
ClinGen gnomAD |
|
|
rs775137524 CA1642423 |
326 | S>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 329 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1642424 rs762735658 |
331 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762735658 CA346800809 |
331 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346800812 rs1320121239 |
332 | V>I | No |
ClinGen gnomAD |
2 associated diseases with O95343
[MIM: 157170]: Holoprosencephaly 2 (HPE2)
A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. {ECO:0000269|PubMed:10369266, ECO:0000269|PubMed:15221788, ECO:0000269|PubMed:15523651, ECO:0000269|PubMed:17001667, ECO:0000269|PubMed:18791198, ECO:0000269|PubMed:20531442}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 269160]: Schizencephaly (SCHZC)
Extremely rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. These clefts are lined with gray matter and most commonly involve the parasylvian regions. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid. {ECO:0000269|PubMed:20157829}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. {ECO:0000269|PubMed:10369266, ECO:0000269|PubMed:15221788, ECO:0000269|PubMed:15523651, ECO:0000269|PubMed:17001667, ECO:0000269|PubMed:18791198, ECO:0000269|PubMed:20531442}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Extremely rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. These clefts are lined with gray matter and most commonly involve the parasylvian regions. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid. {ECO:0000269|PubMed:20157829}. Note=The disease is caused by variants affecting the gene represented in this entry.
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. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| 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. |
| transcription corepressor binding | Binding to a transcription corepressor, a protein involved in negative regulation of transcription via protein-protein interactions with transcription factors and other proteins that negatively regulate transcription. Transcription corepressors do not bind DNA directly, but rather mediate protein-protein interactions between repressing transcription factors and the basal transcription machinery. |
25 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic process involved in development | Any apoptotic process that is involved in anatomical structure development. |
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| cell proliferation in forebrain | The creation of greater cell numbers in the forebrain due to cell division of progenitor cells. |
| epithelial cell maturation | The developmental process, independent of morphogenetic (shape) change, that is required for an epithelial cell to attain its fully functional state. An epithelial cell is a cell usually found in a two-dimensional sheet with a free surface. |
| eye development | The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight. |
| forebrain dorsal/ventral pattern formation | The formation of specific regional progenitor domains along the dorsal-ventral axis in the developing forebrain. |
| lens development in camera-type eye | The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. |
| lens fiber cell apoptotic process | Any apoptotic process in a lens fiber cell. Lens fiber cells are elongated, tightly packed cells that make up the bulk of the mature lens in a camera-type eye. |
| lens fiber cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a lens fiber cell, any of the elongated, tightly packed cells that make up the bulk of the mature lens in the camera-type eye. The cytoplasm of a lens fiber cell is devoid of most intracellular organelles including the cell nucleus, and contains primarily crystallins, a group of water-soluble proteins expressed in vary large quantities. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| negative regulation of neuron differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation. |
| neuroblast differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neuroblast. There are at least four stages through which the pluripotent cells of epiblast or blastula become neuroblasts. |
| neuroblast migration | The orderly movement of a neuroblast from one site to another, often during the development of a multicellular organism or multicellular structure. A neuroblast is any cell that will divide and give rise to a neuron. |
| optic vesicle morphogenesis | The developmental process pertaining to the formation and shaping of the optic vesicle. This process begins with the specific processes that contribute to the appearance of the vesicle and ends when the vesicle has evaginated. The optic vesicle is the evagination of neurectoderm that precedes formation of the optic cup. |
| pituitary gland development | The progression of the pituitary gland over time from its initial formation until its mature state. The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands. |
| proximal/distal axis specification | The establishment, maintenance and elaboration of the proximal/distal axis. The proximal/distal axis is defined by a line that runs from main body (proximal end) of an organism outward (distal end). |
| regulation of cell cycle phase transition | Any process that modulates the frequency, rate or extent of cell cycle phase transition. |
| regulation of cell population proliferation | Any process that modulates the frequency, rate or extent of cell proliferation. |
| regulation of neural precursor cell proliferation | Any process that modulates the frequency, rate or extent of neural precursor cell proliferation. |
| regulation of neural retina development | Any process that modulates the rate, frequency, or extent of neural retina development, the progression of the neural retina over time from its initial formation to the mature structure. The neural retina is the part of the retina that contains neurons and photoreceptor cells. |
| regulation of neuroblast proliferation | Any process that modulates the frequency, rate or extent of neuroblast proliferation. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| telencephalon development | The process whose specific outcome is the progression of the telencephalon over time, from its formation to the mature structure. The telencephalon is the paired anteriolateral division of the prosencephalon plus the lamina terminalis from which the olfactory lobes, cerebral cortex, and subcortical nuclei are derived. |
| telencephalon regionalization | The regionalization process that creates areas within the forebrain that will direct the behavior of cell migration in differentiation as the telencephalon develops. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O93307 | SIX6 | Homeobox protein SIX6 | Gallus gallus (Chicken) | PR |
| O42406 | SIX3 | Homeobox protein SIX3 | Gallus gallus (Chicken) | PR |
| Q95RW8 | Optix | Protein Optix | Drosophila melanogaster (Fruit fly) | PR |
| O95475 | SIX6 | Homeobox protein SIX6 | Homo sapiens (Human) | PR |
| Q15475 | SIX1 | Homeobox protein SIX1 | Homo sapiens (Human) | PR |
| Q9NPC8 | SIX2 | Homeobox protein SIX2 | Homo sapiens (Human) | PR |
| Q9QZ28 | Six6 | Homeobox protein SIX6 | Mus musculus (Mouse) | PR |
| Q62231 | Six1 | Homeobox protein SIX1 | Mus musculus (Mouse) | PR |
| Q62232 | Six2 | Homeobox protein SIX2 | Mus musculus (Mouse) | PR |
| Q62233 | Six3 | Homeobox protein SIX3 | Mus musculus (Mouse) | PR |
| Q94165 | ceh-34 | Homeobox protein ceh-34 | Caenorhabditis elegans | PR |
| Q6NZ04 | six1b | Homeobox protein six1b | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q6DHF9 | six1a | Homeobox protein six1a | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVFRSPLDLY | SSHFLLPNFA | DSHHRSILLA | SSGGGNGAGG | GGGAGGGSGG | GNGAGGGGAG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GAGGGGGGGS | RAPPEELSMF | QLPTLNFSPE | QVASVCETLE | ETGDIERLGR | FLWSLPVAPG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ACEAINKHES | ILRARAVVAF | HTGNFRDLYH | ILENHKFTKE | SHGKLQAMWL | EAHYQEAEKL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RGRPLGPVDK | YRVRKKFPLP | RTIWDGEQKT | HCFKERTRSL | LREWYLQDPY | PNPSKKRELA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QATGLTPTQV | GNWFKNRRQR | DRAAAAKNRL | QHQAIGPSGM | RSLAEPGCPT | HGSAESPSTA |
| 310 | 320 | 330 | |||
| ASPTTSVSSL | TERADTGTSI | LSVTSSDSEC | DV |