Q9NQ69
PR
Gene name |
LHX9 |
Protein name |
LIM/homeobox protein Lhx9 |
Names |
LIM homeobox protein 9 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56956 |
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
2 structures for Q9NQ69
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2DMQ | NMR | - | A | 268-334 | PDB |
| AF-Q9NQ69-F1 | Predicted | AlphaFoldDB |
312 variants for Q9NQ69
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001266509 rs1660237364 |
316 | Q>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM901808 CA1313587 rs773014229 |
2 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 4 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344092200 rs1571397997 |
4 | V>G | No |
ClinGen Ensembl |
|
|
rs1179060827 CA344092205 |
5 | G>E | No |
ClinGen gnomAD |
|
|
CA344092215 rs1392089109 |
7 | R>G | No |
ClinGen gnomAD |
|
|
CA1313588 rs760387680 |
7 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA36097041 rs901943905 |
9 | E>G | No |
ClinGen TOPMed |
|
|
CA1313589 rs765996199 |
10 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA344092243 rs1380930186 |
11 | N>S | No |
ClinGen gnomAD |
|
|
CA344092242 rs1380930186 |
11 | N>T | No |
ClinGen gnomAD |
|
|
CA1313590 rs776130760 |
12 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764808162 CA1313592 |
14 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1313593 rs752304778 |
15 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571398055 CA344092269 |
15 | F>S | No |
ClinGen Ensembl |
|
|
rs537635751 CA1313594 |
16 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1571398067 CA344092275 |
16 | R>P | No |
ClinGen Ensembl |
|
|
rs1029168176 CA36097042 |
17 | P>R | No |
ClinGen TOPMed |
|
|
rs757576735 CA344092283 |
18 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA344092285 rs1414872029 |
18 | P>R | No |
ClinGen gnomAD |
|
|
rs757576735 CA1313597 |
18 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1185357570 CA344092293 |
19 | A>G | No |
ClinGen gnomAD |
|
|
rs12091190 CA36097043 |
19 | A>T | No |
ClinGen gnomAD |
|
|
CA1313598 rs781663927 COSM301274 COSM301273 |
20 | M>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 20 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344092326 rs1423092662 |
23 | H>Q | No |
ClinGen gnomAD |
|
|
rs746077703 CA1313599 |
24 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs756372594 CA1313600 |
25 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 28 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344092360 rs1398221213 |
29 | H>R | No |
ClinGen gnomAD |
|
|
rs1316437482 CA344092375 |
31 | Q>R | No |
ClinGen gnomAD |
|
|
CA344092385 rs1379064786 |
33 | I>L | No |
ClinGen gnomAD |
|
|
CA344092389 rs1227017531 |
33 | I>T | No |
ClinGen gnomAD |
|
|
COSM1213339 COSM1213340 CA1313604 rs777583081 |
34 | M>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1308410843 CA344092392 |
34 | M>L | No |
ClinGen gnomAD |
|
|
CA1313605 rs747021625 |
35 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1259412313 CA344092406 |
35 | E>D | No |
ClinGen TOPMed |
|
|
rs770623864 CA1313606 |
36 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1313607 rs776528891 |
37 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA344092418 rs1205008232 |
37 | M>T | No |
ClinGen gnomAD |
|
|
COSM1668343 COSM1668342 CA1313608 rs759241758 |
39 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs769590567 CA1313609 |
41 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs974075181 CA36097046 |
43 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs542681982 CA1313610 |
45 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1170244333 CA344092475 |
46 | R>C | No |
ClinGen gnomAD |
|
|
CA36097047 rs920489029 |
46 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs113693840 CA1313611 |
48 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1560354 rs577856015 CA1313613 COSM1560353 |
50 | G>D | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs764606159 CA1313612 |
50 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1313615 rs767745554 |
51 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs767745554 CA344092501 |
51 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs147454219 CA1313616 |
51 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756282716 CA1313617 |
53 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1313618 rs780288990 |
54 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1571398218 CA344092520 |
54 | N>T | No |
ClinGen Ensembl |
|
|
rs1315664975 CA344092526 |
55 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1315664975 CA344092525 |
55 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1224870987 CA344092530 |
56 | R>C | No |
ClinGen gnomAD |
|
|
rs144348823 CA1313619 |
56 | R>P | No |
ClinGen ESP ExAC TOPMed |
|
|
CA344092542 rs573388724 |
57 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1313654 rs759627055 |
59 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1313655 rs765525185 |
59 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA344087238 rs1277526829 |
60 | M>I | No |
ClinGen TOPMed |
|
|
rs752652822 CA1313656 |
61 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1313658 rs764327822 |
61 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752652822 CA1313657 |
61 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752652822 CA36097308 |
61 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1245565876 CA344087243 |
62 | P>A | No |
ClinGen gnomAD |
|
|
CA36097309 rs747939801 |
62 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1313660 rs747939801 |
62 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344087248 rs1367114109 |
63 | L>F | No |
ClinGen gnomAD |
|
|
CA344087255 rs1476563739 |
64 | S>N | No |
ClinGen gnomAD |
|
|
rs575984071 CA1313662 |
65 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1313665 rs747810563 |
69 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771603341 CA1313666 |
70 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1333374485 CA344087320 |
70 | L>V | No |
ClinGen gnomAD |
|
|
rs543394420 CA1313668 |
72 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs543394420 CA1313669 |
72 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA344087354 rs1274648962 |
73 | G>C | No |
ClinGen gnomAD |
|
|
rs765318145 CA1313672 |
75 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs775768622 CA1313673 |
76 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254613146 CA344087420 |
77 | K>E | No |
ClinGen gnomAD |
|
|
CA344087458 rs1158306784 |
79 | S>L | No |
ClinGen TOPMed |
|
|
rs751739406 CA1313676 |
83 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 83 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 88 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766452635 CA1313678 |
90 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571400584 CA344087690 |
99 | C>Y | No |
ClinGen Ensembl |
|
|
rs1018534782 CA36097310 |
100 | E>A | No |
ClinGen TOPMed |
|
|
CA344087717 rs1445454923 |
101 | C>S | No |
ClinGen TOPMed |
|
|
CA1313680 rs754819516 |
104 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 105 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752359171 CA1313682 |
109 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA344087801 rs1557972714 |
111 | C>Y | No |
ClinGen Ensembl |
|
|
CA1313684 rs777213069 |
115 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1487482119 CA344087832 |
115 | D>G | No |
ClinGen gnomAD |
|
|
rs1268938657 CA344087835 |
116 | G>C | No |
ClinGen gnomAD |
|
|
CA1313685 rs746551737 |
117 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs771359145 CA1313686 |
118 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA36097312 rs993896409 |
121 | K>M | No |
ClinGen Ensembl |
|
|
CA344087886 rs1375900027 |
123 | D>Y | No |
ClinGen gnomAD |
|
|
rs1159128300 CA344087902 |
125 | Y>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 126 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA36097434 rs982688186 |
127 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA344087934 rs1466259005 |
128 | F>V | No |
ClinGen gnomAD |
|
|
CA36097435 rs909798792 |
130 | V>M | No |
ClinGen Ensembl |
|
|
CA344087987 rs1398153372 |
135 | R>L | No |
ClinGen gnomAD |
|
|
CA344087999 rs1571401644 |
137 | H>P | No |
ClinGen Ensembl |
|
|
CA1313712 rs774732602 |
138 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs762188111 CA1313713 |
141 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA1313714 rs772243786 |
142 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1291121342 CA344088037 |
143 | S>L | No |
ClinGen gnomAD |
|
|
rs759467077 CA344088050 |
144 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1313717 rs765115696 |
145 | M>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 145 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867909984 CA36097436 |
146 | V>I | No |
ClinGen Ensembl |
|
|
CA344088106 rs1305203656 |
148 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs752469419 CA1313718 |
149 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 149 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM901836 COSM901835 rs1177407530 CA344088123 |
150 | R>Q | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1482842393 CA344088128 |
151 | D>N | No |
ClinGen gnomAD |
|
|
rs1265677151 CA344088141 |
152 | S>T | No |
ClinGen gnomAD |
|
|
CA344088170 rs1404232717 |
153 | V>A | No |
ClinGen gnomAD |
|
|
rs762748283 CA1313720 |
157 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1416179789 CA344088265 |
160 | T>I | No |
ClinGen gnomAD |
|
|
rs1416179789 CA344088263 |
160 | T>N | No |
ClinGen gnomAD |
|
|
CA1313721 rs763934424 |
166 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 171 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344088338 rs1233404768 |
172 | D>N | No |
ClinGen TOPMed |
|
|
CA36097438 rs74638981 |
175 | G>D | No |
ClinGen Ensembl |
|
|
CA36097439 rs143996891 |
176 | M>L | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 176 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749926566 CA1313725 |
177 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1313726 rs756606387 |
178 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1313727 rs570271166 |
179 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA36097440 rs892728954 |
179 | S>N | No |
ClinGen TOPMed |
|
|
rs1045322075 CA344088393 |
179 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA344088397 rs1279190438 |
180 | L>R | No |
ClinGen gnomAD |
|
|
rs755384384 CA1313729 |
184 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs755384384 CA344088425 |
184 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA344088429 rs1287926137 |
185 | A>S | No |
ClinGen gnomAD |
|
|
CA344088445 rs1219028829 |
187 | F>S | No |
ClinGen TOPMed |
|
|
rs1281728072 CA344088443 |
187 | F>V | No |
ClinGen TOPMed |
|
| TCGA novel | 188 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200641597 CA1313730 |
189 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344088480 rs1440730620 |
192 | Q>R | No |
ClinGen TOPMed |
|
|
CA344088486 rs372071986 |
193 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372071986 CA1313731 |
193 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1313732 rs772203731 |
194 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773299446 CA1313733 |
194 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA36097444 rs772203731 |
194 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431982960 CA344088497 |
195 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 195 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747062980 CA1313734 |
196 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA36097445 rs145525454 |
197 | P>S | No |
ClinGen ESP TOPMed |
|
|
CA1313735 rs769711932 |
199 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775276397 CA1313736 |
200 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1313737 rs762944767 |
201 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA1313738 rs763846426 |
202 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs149074150 CA1313739 |
203 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1313740 rs761407555 |
205 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA344088556 rs1311284545 |
205 | A>V | No |
ClinGen gnomAD |
|
|
rs749884890 CA1313742 |
208 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA344088575 rs1282485317 |
208 | S>N | No |
ClinGen gnomAD |
|
|
CA1313744 rs765975854 |
209 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs200168581 CA1313745 |
210 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344088593 rs1381465977 |
211 | L>P | No |
ClinGen gnomAD |
|
|
rs1439528246 CA344088597 |
212 | A>T | No |
ClinGen gnomAD |
|
|
rs892127571 CA36097449 |
214 | P>S | No |
ClinGen gnomAD |
|
|
rs1405390232 CA344088614 |
215 | Y>S | No |
ClinGen gnomAD |
|
|
CA344088634 rs576950776 CA344088633 |
217 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA344088635 rs748551619 |
218 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1313748 rs748551619 |
218 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1313749 rs374656570 |
218 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA36097450 rs374017815 |
219 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs374017815 CA1313750 |
219 | T>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA344088643 rs1222540097 |
220 | G>S | No |
ClinGen TOPMed |
|
|
rs534591311 CA1313751 |
220 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1313757 rs761519399 |
222 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA344088656 rs761519399 |
222 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA1313755 rs768603459 |
222 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768603459 CA1313756 |
222 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767142030 CA344088676 |
225 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA1313758 rs767142030 |
225 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA36097453 rs750699252 |
230 | R>G | No |
ClinGen Ensembl |
|
|
rs772729961 CA1313759 |
230 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs147043102 CA1313760 |
233 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs778060357 CA1313762 |
234 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs765779735 CA1313761 |
234 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344088729 rs778060357 |
234 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA344088735 rs1302485414 |
236 | G>R | No |
ClinGen TOPMed |
|
|
CA344088753 rs1163548042 |
238 | D>E | No |
ClinGen gnomAD |
|
|
rs1571402094 CA344088751 |
238 | D>G | No |
ClinGen Ensembl |
|
|
CA1313764 rs371329562 |
238 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201684330 CA1313767 |
239 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs183473436 CA1313766 |
239 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1313765 rs758647618 |
239 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1400347085 CA344088769 |
241 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 242 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1445987289 CA344088791 |
244 | S>P | No |
ClinGen gnomAD |
|
|
rs1001764104 CA36098139 |
246 | C>S | No |
ClinGen TOPMed |
|
|
CA344088823 rs1490221711 |
246 | C>Y | No |
ClinGen TOPMed |
|
|
CA1313793 CA344088841 rs12046958 |
247 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA344088890 rs1427465369 |
251 | A>V | No |
ClinGen gnomAD |
|
|
CA1313794 rs772065228 |
253 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA344088919 rs1379337835 |
253 | H>Q | No |
ClinGen gnomAD |
|
|
rs777387547 CA1313795 |
254 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA344088947 rs1373407901 |
256 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM1213342 CA1313796 rs746821050 COSM1213341 |
256 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA344088949 rs1373407901 |
256 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA1313797 rs563427620 |
257 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372121857 CA36098141 |
259 | Q>R | No |
ClinGen ESP |
|
|
CA344088996 rs1384500271 |
260 | P>T | No |
ClinGen gnomAD |
|
|
rs192831993 CA1313798 |
262 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344089017 rs1380646386 |
262 | P>T | No |
ClinGen gnomAD |
|
|
CA344089029 rs1234224693 |
263 | P>H | No |
ClinGen gnomAD |
|
|
CA1313799 rs543362776 |
263 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775114094 CA1313801 |
264 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1313803 rs764693333 |
265 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202958300 CA344089080 |
268 | K>T | No |
ClinGen gnomAD |
|
|
CA1313806 rs767930205 |
270 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1364963667 CA344089092 |
270 | M>V | No |
ClinGen gnomAD |
|
|
CA36098142 rs184403189 |
271 | R>L | No |
ClinGen 1000Genomes |
|
| TCGA novel | 274 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1439756547 CA344089143 |
277 | H>R | No |
ClinGen gnomAD |
|
|
rs750642964 CA1313807 |
280 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA344089166 rs1158994834 |
281 | T>A | No |
ClinGen gnomAD |
|
|
CA344089170 rs1362971770 |
281 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 283 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756372392 CA1313808 |
287 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs753979331 CA1313810 |
288 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA1313809 rs766428867 |
288 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1431269194 CA344089247 |
292 | P>L | No |
ClinGen TOPMed |
|
|
CA344089357 rs1379727633 |
305 | G>S | No |
ClinGen gnomAD |
|
|
rs1157745107 CA344089394 |
307 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 309 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1038225568 CA36098277 |
318 | A>G | No |
ClinGen Ensembl |
|
|
rs1250683732 CA344089691 |
318 | A>T | No |
ClinGen gnomAD |
|
|
rs1479567013 CA344089706 |
319 | R>G | No |
ClinGen gnomAD |
|
|
rs1183361682 CA344089710 |
319 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 321 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344089757 rs1403581838 |
325 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 325 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757308599 CA1313833 |
326 | L>I | No |
ClinGen ExAC gnomAD |
|
|
COSM678284 CA1313835 COSM678283 rs745689120 |
328 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs745689120 CA344089772 |
328 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344089771 rs1186020575 |
328 | R>W | No |
ClinGen gnomAD |
|
|
CA1313836 rs755762305 |
329 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779771997 CA1313837 |
330 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs748953733 CA1313838 |
331 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1313839 rs139884549 |
331 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA344089792 rs1474116817 |
331 | N>K | No |
ClinGen TOPMed |
|
|
rs773776739 CA1313840 |
332 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs773776739 CA344089797 |
332 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs772578156 CA1313842 |
333 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 333 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 337 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344089836 rs1241018608 |
338 | D>G | No |
ClinGen TOPMed |
|
|
rs1212105349 CA344089842 |
339 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1313845 rs771253133 |
339 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212105349 CA344089844 |
339 | G>V | No |
ClinGen gnomAD |
|
|
CA1313846 rs776883696 |
340 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs896351239 CA36098279 |
341 | S>W | No |
ClinGen Ensembl |
|
|
CA36098281 rs1021131640 |
343 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 344 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344089871 rs1447607246 |
344 | A>V | No |
ClinGen gnomAD |
|
|
CA344089876 rs1308471113 |
345 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 345 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1313848 rs372714030 |
345 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344089885 rs1275673124 |
347 | S>T | No |
ClinGen TOPMed |
|
|
CA1313851 rs767593231 |
348 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1310752421 CA344089898 |
349 | D>G | No |
ClinGen gnomAD |
|
|
rs376004736 CA36098282 |
352 | A>T | No |
ClinGen ESP |
|
|
rs779752154 CA1313855 |
353 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA344089927 rs753522044 |
354 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs753522044 CA1313856 |
354 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA1313857 rs754642556 |
356 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA36098285 rs964938807 |
357 | G>A | No |
ClinGen gnomAD |
|
|
rs369709160 CA36098284 |
357 | G>S | No |
ClinGen ESP |
|
|
CA344089948 rs1557977692 |
358 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs778333620 CA344089955 |
359 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA1313858 rs778333620 |
359 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1557977705 CA344089953 |
359 | A>S | No |
ClinGen Ensembl |
|
|
rs1231790449 CA344089961 |
360 | T>S | No |
ClinGen gnomAD |
|
|
CA344089965 rs1288485946 |
361 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1288485946 CA344089964 |
361 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1557977729 CA344089977 |
363 | T>A | No |
ClinGen Ensembl |
|
|
rs747657425 CA1313859 |
364 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344089993 rs1571408437 |
365 | L>R | No |
ClinGen Ensembl |
|
|
rs778233746 CA1313861 |
366 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394991360 CA344090019 |
370 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1453014364 CA344090031 |
371 | T>I | No |
ClinGen gnomAD |
|
|
CA1313862 rs747557317 |
373 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA344090059 rs1400958462 |
376 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1571408503 CA344090061 |
377 | T>P | No |
ClinGen Ensembl |
|
|
CA344090072 rs1157845992 |
378 | S>C | No |
ClinGen gnomAD |
|
|
CA1313866 rs564768771 |
380 | M>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA36098287 rs564768771 |
380 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 381 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344090098 rs1370128724 |
382 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1438574257 CA344090106 |
383 | H>N | No |
ClinGen gnomAD |
|
| TCGA novel | 385 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA36098288 rs868706408 |
386 | G>E | No |
ClinGen Ensembl |
|
|
rs1223432439 CA344090150 |
389 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs536825169 CA36098289 |
390 | Q>R | No |
ClinGen gnomAD |
|
|
CA344090164 rs1571408569 |
392 | T>P | No |
ClinGen Ensembl |
|
|
CA1313869 rs764317541 |
393 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA344090200 rs1571408582 |
395 | N>T | No |
ClinGen Ensembl |
|
|
rs375493889 CA1313872 |
396 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375493889 CA344090208 |
396 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766180990 CA1313873 |
397 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA36098290 rs983514102 |
397 | F>L | No |
ClinGen Ensembl |
No associated diseases with Q9NQ69
4 regional properties for Q9NQ69
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Homeobox domain | 265 - 329 | IPR001356 |
| domain | Zinc finger, LIM-type | 69 - 130 | IPR001781-1 |
| domain | Zinc finger, LIM-type | 131 - 193 | IPR001781-2 |
| conserved_site | Homeobox, conserved site | 300 - 323 | IPR017970 |
2 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. |
4 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. |
| metal ion binding | Binding to a metal ion. |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron 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. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| cell population proliferation | The multiplication or reproduction of cells, resulting in the expansion of a cell population. |
| dorsal spinal cord interneuron anterior axon guidance | The process in which the migration of an axon growth cone of a dorsal spinal cord interneuron is directed to a specific target site in the anterior direction along the anterior-posterior body axis in response to a combination of attractive and repulsive cues. The anterior-posterior axis is defined by a line that runs from the head or mouth of an organism to the tail or opposite end of the organism. |
| female gonad development | The process whose specific outcome is the progression of the female gonad over time, from its formation to the mature structure. |
| gonad morphogenesis | The process in which the anatomical structures of the gonads are generated and organized. A gonad is an animal organ producing gametes, e.g. the testes or the ovary in mammals. |
| male gonad development | The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| neuron differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neuron. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
21 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A0JNI8 | LHX9 | LIM/homeobox protein Lhx9 | Bos taurus (Bovine) | PR |
| F1NEA7 | DMBX1 | Diencephalon/mesencephalon homeobox protein 1 | Gallus gallus (Chicken) | PR |
| Q90963 | PRRX2 | Paired mesoderm homeobox protein 2 | Gallus gallus (Chicken) | PR |
| Q90881 | LHX9 | LIM/homeobox protein Lhx9 | Gallus gallus (Chicken) | PR |
| Q8IRC7 | Awh | LIM/homeobox protein Awh | Drosophila melanogaster (Fruit fly) | PR |
| Q8NHV9 | RHOXF1 | Rhox homeobox family member 1 | Homo sapiens (Human) | PR |
| O95076 | ALX3 | Homeobox protein aristaless-like 3 | Homo sapiens (Human) | PR |
| Q9BQY4 | RHOXF2 | Rhox homeobox family member 2 | Homo sapiens (Human) | PR |
| Q99811 | PRRX2 | Paired mesoderm homeobox protein 2 | Homo sapiens (Human) | PR |
| O15266 | SHOX | Short stature homeobox protein | Homo sapiens (Human) | PR |
| P50458 | LHX2 | LIM/homeobox protein Lhx2 | Homo sapiens (Human) | PR |
| P63013 | Prrx1 | Paired mesoderm homeobox protein 1 | Mus musculus (Mouse) | PR |
| Q8VIH1 | Nobox | Homeobox protein NOBOX | Mus musculus (Mouse) | PR |
| Q06348 | Prrx2 | Paired mesoderm homeobox protein 2 | Mus musculus (Mouse) | PR |
| O88933 | Esx1 | Extraembryonic, spermatogenesis, homeobox 1 (Homeobox protein SPX1) (Homeodomain protein EPX) | Mus musculus (Mouse) | EV |
| Q9WUH2 | Lhx9 | LIM/homeobox protein Lhx9 | Mus musculus (Mouse) | PR |
| P36198 | Lhx2 | LIM/homeobox protein Lhx2 | Rattus norvegicus (Rat) | PR |
| Q80W90 | Lhx9 | LIM/homeobox protein Lhx9 | Rattus norvegicus (Rat) | PR |
| Q28G02 | siamois | Homeobox protein siamois | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q566X8 | dmbx1b | Diencephalon/mesencephalon homeobox protein 1-B | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q1LWV4 | lhx9 | LIM/homeobox protein Lhx9 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEIVGCRAED | NSCPFRPPAM | LFHGISGGHI | QGIMEEMERR | SKTEARLAKG | AQLNGRDAGM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PPLSPEKPAL | CAGCGGKISD | RYYLLAVDKQ | WHLRCLKCCE | CKLALESELT | CFAKDGSIYC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KEDYYRRFSV | QRCARCHLGI | SASEMVMRAR | DSVYHLSCFT | CSTCNKTLTT | GDHFGMKDSL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VYCRAHFETL | LQGEYPPQLS | YTELAAKSGG | LALPYFNGTG | TVQKGRPRKR | KSPALGVDIV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NYNSGCNENE | ADHLDRDQQP | YPPSQKTKRM | RTSFKHHQLR | TMKSYFAINH | NPDAKDLKQL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AQKTGLTKRV | LQVWFQNARA | KFRRNLLRQE | NGGVDKADGT | SLPAPPSADS | GALTPPGTAT |
| 370 | 380 | 390 | |||
| TLTDLTNPTI | TVVTSVTSNM | DSHESGSPSQ | TTLTNLF |