P40424
PR
Gene name |
PBX1 (PRL) |
Protein name |
Pre-B-cell leukemia transcription factor 1 |
Names |
Homeobox protein PBX1, Homeobox protein PRL |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5087 |
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
3 structures for P40424
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1B72 | X-ray | 235 A | B | 233-319 | PDB |
| 1PUF | X-ray | 190 A | B | 233-305 | PDB |
| AF-P40424-F1 | Predicted | AlphaFoldDB |
216 variants for P40424
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000824977 rs1571217834 CA343470495 |
49 | Q>* | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553247020 RCV000578425 |
138 | G>missing | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000504557 rs1553247028 |
143 | N>missing | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553248081 CA343470773 RCV000504555 RCV003126773 COSM898869 |
184 | R>* | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Variant assessed as Somatic; impact. endometrium Autism spectrum disorder [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
| VAR_079369 | 184 | R>del | CAKUTHED; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV001029777 rs1571431063 |
207 | K>missing | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1668978337 RCV001280817 |
212 | Q>* | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay [ClinVar] | Yes |
ClinVar dbSNP |
|
CA343471034 RCV000995595 rs1571431145 |
221 | E>* | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA343471077 rs1553248110 RCV000626307 |
227 | R>P | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1668981132 RCV001266359 |
229 | R>* | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553248112 CA343471119 RCV000626308 RCV001270721 |
234 | R>P | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay PBX1-related intellectual disability and pleiotropic developmental defects [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000677637 CA343471118 COSM302865 rs1553248112 |
234 | R>Q | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA343471135 rs1553249136 RCV001547683 RCV000626309 |
235 | R>Q | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1571445295 RCV001029963 CA343471134 |
235 | R>W | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669419321 RCV001266262 |
254 | S>P | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000626310 rs1553249146 |
262 | S>missing | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay [ClinVar] | Yes |
ClinVar dbSNP |
|
CA343471412 RCV000735243 rs1558020021 |
273 | C>Y | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1669421181 RCV001251145 |
279 | Q>R | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay [ClinVar] | Yes |
ClinVar dbSNP |
|
CA32136976 rs375925928 |
3 | E>D | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 3 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA32136977 rs1031011831 |
4 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA343470087 rs1344429665 |
6 | R>S | No |
ClinGen TOPMed |
|
|
CA32136978 rs958254448 |
8 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA343470100 rs958254448 |
8 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs747490519 CA1219284 |
11 | H>L | No |
ClinGen ExAC TOPMed |
|
|
rs1435469620 CA343470145 |
11 | H>Y | No |
ClinGen gnomAD |
|
|
CA343470176 rs1304780734 |
13 | G>E | No |
ClinGen gnomAD |
|
|
CA343470195 rs1431301757 |
15 | G>E | No |
ClinGen TOPMed |
|
|
rs769041303 CA1219285 |
17 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs544057798 CA1219287 |
18 | G>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1379669919 CA343470232 |
18 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA343470226 rs544057798 CA1219286 |
18 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773577978 CA1219289 |
19 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs763090532 CA343470245 |
19 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765608918 CA1219288 |
19 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA343470256 rs1249217854 |
20 | P>L | No |
ClinGen gnomAD |
|
|
CA343470254 rs1249217854 |
20 | P>R | No |
ClinGen gnomAD |
|
|
CA343470247 rs1211667432 |
20 | P>T | No |
ClinGen gnomAD |
|
|
CA343470258 rs2275558 |
21 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 22 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751494699 CA1219292 |
24 | Q>R | No |
ClinGen ExAC |
|
|
CA343470314 rs1418007558 |
26 | L>V | No |
ClinGen TOPMed |
|
|
rs1480951245 CA343470349 |
28 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 29 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 30 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343470370 rs1192905716 |
31 | G>R | No |
ClinGen gnomAD |
|
|
VAR_068904 rs2275558 CA1219291 |
31 | G>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1219294 rs192264696 |
31 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343470378 rs1433807647 |
32 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA343470383 rs1178355813 |
33 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1178355813 CA343470381 |
33 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1461673861 CA343470399 |
35 | G>A | No |
ClinGen gnomAD |
|
|
rs1461673861 CA343470400 |
35 | G>E | No |
ClinGen gnomAD |
|
|
CA343470395 rs1305643442 |
35 | G>R | No |
ClinGen TOPMed |
|
|
CA343470414 rs1299022900 |
37 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 37 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1219295 rs370561885 |
38 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1325785503 CA343470422 |
39 | R>K | No |
ClinGen gnomAD |
|
|
rs777341799 CA1219297 |
45 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs111531180 CA32136984 |
51 | M>T | No |
ClinGen Ensembl |
|
|
CA343470556 rs1306484700 |
57 | S>N | No |
ClinGen gnomAD |
|
|
CA32136986 rs866899815 |
60 | E>* | No |
ClinGen Ensembl |
|
|
CA1219298 rs148894677 |
63 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 65 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA32137329 rs200380618 |
68 | L>* | No |
ClinGen Ensembl |
|
|
CA343469106 rs1571224461 |
69 | N>T | No |
ClinGen Ensembl |
|
|
CA1219322 rs369144775 |
75 | P>L | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 79 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1219323 rs749957295 |
79 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA32137331 rs138090483 COSM1689063 COSM107357 |
86 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA343469651 rs1423937629 |
93 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1423937629 CA343469652 |
93 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA343469655 rs1481766438 |
93 | R>L | No |
ClinGen TOPMed |
|
|
CA32162928 rs35543782 |
94 | G>E | No |
ClinGen TOPMed |
|
|
rs867567117 CA32162929 |
97 | E>K | No |
ClinGen Ensembl |
|
|
rs1466947651 CA343469713 |
102 | D>A | No |
ClinGen gnomAD |
|
| TCGA novel | 103 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 107 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757647151 CA1219349 |
109 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 111 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 113 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 114 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343469820 rs1332887753 |
118 | A>S | No |
ClinGen gnomAD |
|
|
CA1219353 rs775678833 |
122 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1571416477 RCV001008432 |
125 | G>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 126 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA32162933 rs962037824 |
126 | S>A | No |
ClinGen TOPMed |
|
|
rs768635810 CA1219356 |
126 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1349939044 CA343469878 |
127 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1210943507 CA343469884 |
128 | A>V | No |
ClinGen gnomAD |
|
|
rs772720191 CA1219360 |
130 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343469891 rs765108033 |
130 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs765108033 CA1219359 |
130 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA32162935 rs772720191 COSM898866 |
130 | A>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
RCV001008581 rs1571416623 |
131 | A>missing | No |
ClinVar dbSNP |
|
|
rs765806321 CA1219362 |
131 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 132 | A>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1185439958 CA343469904 |
132 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA343469909 rs1458267934 |
133 | A>E | No |
ClinGen gnomAD |
|
|
rs1458267934 CA343469911 |
133 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1219367 rs754428947 |
134 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343469939 rs1454591193 |
138 | G>A | No |
ClinGen TOPMed |
|
|
rs201279083 CA1219369 |
139 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 140 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343469947 rs953834516 |
140 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs953834516 CA32162936 |
140 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA343469955 RCV000760618 rs866426234 |
141 | S>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs866426234 CA32162937 |
141 | S>L | No |
ClinGen Ensembl |
|
|
rs1571416832 CA343469980 |
145 | V>L | No |
ClinGen Ensembl |
|
| TCGA novel | 153 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747029494 CA1219373 |
153 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1489019776 CA343470167 |
159 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA343470196 rs1410575958 |
161 | Y>F | No |
ClinGen TOPMed |
|
|
CA343470738 rs375506788 |
178 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769833066 CA1219394 |
180 | M>I | Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs556050975 CA1219395 |
186 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA32163715 rs1006016890 |
187 | S>I | No |
ClinGen Ensembl |
|
| TCGA novel | 188 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774100520 CA1219398 |
194 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 196 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343470873 rs1433896828 |
199 | R>Q | No |
ClinGen gnomAD |
|
|
rs771675680 COSM898870 CA1219400 |
199 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 201 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775205004 CA1219401 |
201 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 203 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343470925 rs1421804755 |
206 | R>L | No |
ClinGen gnomAD |
|
|
CA343470939 rs1171842620 |
208 | F>C | No |
ClinGen gnomAD |
|
|
CA343470935 rs1571431073 |
208 | F>V | No |
ClinGen Ensembl |
|
| TCGA novel | 218 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1571431167 CA343471049 |
223 | V>G | No |
ClinGen Ensembl |
|
|
rs868523852 CA32163716 |
233 | A>E | No |
ClinGen Ensembl |
|
|
rs1218945005 CA343471117 |
234 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 249 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 252 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 263 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 276 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343471530 rs1259895025 |
288 | R>* | No |
ClinGen gnomAD |
|
|
rs866844940 CA32164937 |
292 | K>T | No |
ClinGen Ensembl |
|
| TCGA novel | 295 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753922245 CA1219448 |
301 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 306 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458613469 CA343471664 |
307 | A>T | No |
ClinGen gnomAD |
|
|
CA343471684 rs1181126074 |
310 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 312 | T>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558022479 CA343471702 |
313 | A>T | No |
ClinGen Ensembl |
|
|
rs1477435698 CA343471709 |
314 | T>A | No |
ClinGen gnomAD |
|
|
rs546195075 CA32164939 |
315 | N>S | No |
ClinGen gnomAD |
|
|
rs267598144 CA32164940 |
320 | G>E | No |
ClinGen Ensembl |
|
|
rs765200363 CA1219450 |
324 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1558022514 CA343471786 |
325 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1400850042 CA343471804 |
328 | T>I | No |
ClinGen gnomAD |
|
|
CA343471810 rs1290495014 |
329 | P>R | No |
ClinGen TOPMed |
|
| TCGA novel | 329 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343471848 rs1175974386 |
333 | G>D | No |
ClinGen TOPMed |
|
|
rs1480599224 CA343471860 |
335 | S>C | No |
ClinGen TOPMed |
|
|
rs1424046891 CA343471866 |
336 | S>T | No |
ClinGen gnomAD |
|
|
rs905922107 CA32165772 |
337 | S>Y | No |
ClinGen Ensembl |
|
|
CA343471887 rs1310898359 |
339 | N>S | No |
ClinGen gnomAD |
|
|
CA343471892 rs1256887115 |
340 | M>V | No |
ClinGen TOPMed |
|
|
CA1219466 rs776997383 |
341 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA343471906 rs1161353651 |
342 | N>D | No |
ClinGen gnomAD |
|
|
CA343471930 rs1212721505 |
345 | D>V | No |
ClinGen TOPMed |
|
|
COSM676514 rs1324292200 CA343471939 |
346 | L>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 346 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343471954 CA1219467 rs761944828 |
348 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343471950 rs1321918768 |
348 | M>L | No |
ClinGen TOPMed |
|
|
CA1219469 rs750360584 |
350 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282894507 CA343472008 |
356 | D>V | No |
ClinGen gnomAD |
|
|
CA1219472 rs751257842 |
357 | S>A | No |
ClinGen ExAC |
|
| TCGA novel | 357 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780672150 CA1219474 |
361 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1219475 rs752373773 |
365 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA343472073 rs1372566739 |
366 | N>I | No |
ClinGen TOPMed |
|
|
rs142396283 CA1219477 |
367 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs906379595 CA32165774 |
368 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1219478 rs746371607 |
368 | Q>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 370 | Q>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1219481 rs747269460 COSM676513 |
370 | Q>L | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA1219482 rs747269460 |
370 | Q>R | No |
ClinGen ExAC |
|
|
rs1571471422 CA343472128 |
373 | T>P | No |
ClinGen Ensembl |
|
|
CA343472140 rs1339209588 |
374 | L>H | No |
ClinGen gnomAD |
|
|
CA32165905 rs868781414 |
375 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1219508 rs201963901 |
375 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 376 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 376 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775324300 CA1219510 |
378 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775324300 CA1219509 |
378 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 379 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753557796 CA1219512 |
384 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA32165906 rs1037995461 |
385 | S>N | No |
ClinGen Ensembl |
|
|
CA1219513 rs201029742 COSM1335884 |
387 | G>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
COSM1335885 rs541105414 CA1219516 |
389 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA1219517 rs564455203 |
390 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1219518 rs748459643 |
390 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA343472277 rs1420999764 |
392 | Q>H | No |
ClinGen gnomAD |
|
|
CA343472275 rs1251320270 |
392 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA343472282 rs1196974442 |
393 | M>K | No |
ClinGen gnomAD |
|
|
rs756581427 CA1219519 |
394 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466818722 COSM898875 CA343472307 |
396 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1219522 rs770885352 |
397 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs146653553 CA1219523 |
398 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
rs745780226 CA1219524 |
400 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1332683363 CA343472334 |
400 | S>R | No |
ClinGen gnomAD |
|
|
rs1297562435 CA343469285 |
402 | N>H | No |
ClinGen gnomAD |
|
|
CA1219547 rs768408673 |
404 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA343469310 rs1264921684 |
405 | W>C | No |
ClinGen gnomAD |
|
|
CA1219548 rs776551626 |
411 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1558042645 CA343469363 |
413 | S>L | No |
ClinGen Ensembl |
|
|
CA343469366 rs1224964185 |
414 | V>M | No |
ClinGen gnomAD |
|
|
rs773697815 CA32168716 |
418 | T>A | No |
ClinGen TOPMed |
|
|
CA343469404 rs1205686195 |
420 | G>D | No |
ClinGen gnomAD |
|
|
CA1219551 rs150307059 |
422 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1571521020 CA343469434 |
425 | H>D | No |
ClinGen Ensembl |
|
|
rs1302539075 CA343469436 |
425 | H>R | No |
ClinGen TOPMed |
|
|
CA32168717 rs112169952 |
429 | S>P | No |
ClinGen Ensembl |
|
|
CA343469462 rs1456864262 |
429 | S>Y | No |
ClinGen gnomAD |
2 associated diseases with P40424
[MIM: 617641]: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (CAKUTHED)
An autosomal dominant disorder characterized by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear. Most patients have hearing loss, and some may have global developmental delay. {ECO:0000269|PubMed:28270404, ECO:0000269|PubMed:28566479}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant disorder characterized by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear. Most patients have hearing loss, and some may have global developmental delay. {ECO:0000269|PubMed:28270404, ECO:0000269|PubMed:28566479}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
| RNA polymerase II transcription regulator complex | A transcription factor complex that acts at a regulatory region of a gene transcribed by RNA polymerase II. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| 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 | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| 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. |
| DNA-binding transcription factor binding | Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription. |
| 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 cis-regulatory region binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon. |
| transcription coregulator binding | Binding to a transcription coregulator, a protein involved in regulation of transcription via protein-protein interactions with transcription factors and other transcription regulatory proteins. Cofactors do not bind DNA directly, but rather mediate protein-protein interactions between regulatory transcription factors and the basal transcription machinery. |
| 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. |
26 GO annotations of biological process
| Name | Definition |
|---|---|
| adrenal gland development | The process whose specific outcome is the progression of the adrenal gland over time, from its formation to the mature structure. This gland can either be a discrete structure located bilaterally above each kidney, or a cluster of cells in the head kidney that perform the functions of the adrenal gland. In either case, this organ consists of two cells types, aminergic chromaffin cells and steroidogenic cortical cells. |
| animal organ morphogenesis | Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. |
| anterior/posterior pattern specification | The regionalization process in which specific areas of cell differentiation are determined along the anterior-posterior axis. 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. |
| 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.). |
| branching involved in ureteric bud morphogenesis | The process in which the branching structure of the ureteric bud is generated and organized. The ureteric bud is an epithelial tube that grows out from the metanephric duct. The bud elongates and branches to give rise to the ureter and kidney collecting tubules. |
| embryonic hemopoiesis | The stages of blood cell formation that take place within the embryo. |
| embryonic limb morphogenesis | The process, occurring in the embryo, by which the anatomical structures of the limb are generated and organized. A limb is an appendage of an animal used for locomotion or grasping. |
| embryonic organ development | Development, taking place during the embryonic phase, of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. |
| embryonic skeletal system development | The process, occurring during the embryonic phase, whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. |
| 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. |
| G2/M transition of mitotic cell cycle | The mitotic cell cycle transition by which a cell in G2 commits to M phase. The process begins when the kinase activity of M cyclin/CDK complex reaches a threshold high enough for the cell cycle to proceed. This is accomplished by activating a positive feedback loop that results in the accumulation of unphosphorylated and active M cyclin/CDK complex. |
| natural killer cell differentiation | The process in which a relatively unspecialized cell acquires the specialized features of a natural killer cell. |
| negative regulation of DNA-binding transcription factor activity | Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
| negative regulation of neuron differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation. |
| neuron development | The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. |
| positive regulation of G2/M transition of mitotic cell cycle | Any signalling pathway that activates or increases the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G2 phase to M phase of the mitotic cell cycle. |
| positive regulation of stem cell proliferation | Any process that activates or increases the frequency, rate or extent of stem cell proliferation. |
| 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. |
| proximal/distal pattern formation | The regionalization process in which specific areas of cell differentiation are determined along a 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 ossification | Any process that modulates the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| sex differentiation | The establishment of the sex of an organism by physical differentiation. |
| spleen development | The process whose specific outcome is the progression of the spleen over time, from its formation to the mature structure. The spleen is a large vascular lymphatic organ composed of white and red pulp, involved both in hemopoietic and immune system functions. |
| stem cell proliferation | The multiplication or reproduction of stem cells, resulting in the expansion of a stem cell population. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. |
| steroid biosynthetic process | The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification. |
| thymus development | The process whose specific outcome is the progression of the thymus over time, from its formation to the mature structure. The thymus is a symmetric bi-lobed organ involved primarily in the differentiation of immature to mature T cells, with unique vascular, nervous, epithelial, and lymphoid cell components. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P40425 | PBX2 | Pre-B-cell leukemia transcription factor 2 | Homo sapiens (Human) | PR |
| Q8IUE1 | TGIF2LX | Homeobox protein TGIF2LX | Homo sapiens (Human) | PR |
| O14770 | MEIS2 | Homeobox protein Meis2 | Homo sapiens (Human) | EV |
| Q99687 | MEIS3 | Homeobox protein Meis3 | Homo sapiens (Human) | SS |
| O00470 | MEIS1 | Homeobox protein Meis1 | Homo sapiens (Human) | SS |
| A8K0S8 | MEIS3P2 | Putative homeobox protein Meis3-like 2 | Homo sapiens (Human) | PR |
| A6NDR6 | MEIS3P1 | Putative homeobox protein Meis3-like 1 | Homo sapiens (Human) | PR |
| O35984 | Pbx2 | Pre-B-cell leukemia transcription factor 2 | Mus musculus (Mouse) | PR |
| Q75LX9 | Os03g0673500 | Putative homeobox protein knotted-1-like 5 | Oryza sativa subsp japonica (Rice) | PR |
| Q75LX7 | OSH10 | Homeobox protein knotted-1-like 4 | Oryza sativa subsp japonica (Rice) | PR |
| Q19503 | ceh-40 | Homeobox protein ceh-40 | Caenorhabditis elegans | PR |
| Q1PFD1 | BLH11 | BEL1-like homeodomain protein 11 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SIW1 | BLH7 | BEL1-like homeodomain protein 7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDEQPRLMHS | HAGVGMAGHP | GLSQHLQDGA | GGTEGEGGRK | QDIGDILQQI | MTITDQSLDE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AQARKHALNC | HRMKPALFNV | LCEIKEKTVL | SIRGAQEEEP | TDPQLMRLDN | MLLAEGVAGP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EKGGGSAAAA | AAAAASGGAG | SDNSVEHSDY | RAKLSQIRQI | YHTELEKYEQ | ACNEFTTHVM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NLLREQSRTR | PISPKEIERM | VSIIHRKFSS | IQMQLKQSTC | EAVMILRSRF | LDARRKRRNF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NKQATEILNE | YFYSHLSNPY | PSEEAKEELA | KKCGITVSQV | SNWFGNKRIR | YKKNIGKFQE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EANIYAAKTA | VTATNVSAHG | SQANSPSTPN | SAGSSSSFNM | SNSGDLFMSV | QSLNGDSYQG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AQVGANVQSQ | VDTLRHVISQ | TGGYSDGLAA | SQMYSPQGIS | ANGGWQDATT | PSSVTSPTEG |
| PGSVHSDTSN |