Q92796
SS
Gene name |
DLG3 (KIAA1232) |
Protein name |
Disks large homolog 3 |
Names |
Neuroendocrine-DLG , Synapse-associated protein 102 , SAP-102 , SAP102 , XLMR |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1741 |
EC number |
|
Protein Class |
|
Descriptions
Dlg1 is a member of the membrane-associated guanylate kinase (MAGUK) family of PDZ domain-containing proteins and regulates surface expression of NMDA receptors. PDZ domain adjacent to SH3 and SH3 domain interacts with GK domain for autoinhibition.
Autoinhibitory domains (AIDs)
Target domain |
607-795 (GK domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Target domain |
607-795 (GK domain) |
Relief mechanism |
Partner binding, Others |
Assay |
|
Accessory elements
No accessory elements
References
- Qian Y et al. (2006) "Interdomain interactions in the tumor suppressor discs large regulate binding to the synaptic protein GukHolder", The Journal of biological chemistry, 281, 35757-63
- McGee AW et al. (1999) "Identification of an intramolecular interaction between the SH3 and guanylate kinase domains of PSD-95", The Journal of biological chemistry, 274, 17431-6
- Brenman JE et al. (1998) "Localization of postsynaptic density-93 to dendritic microtubules and interaction with microtubule-associated protein 1A", The Journal of neuroscience : the official journal of the Society for Neuroscience, 18, 8805-13
Autoinhibited structure
Activated structure
4 structures for Q92796
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1UM7 | NMR | - | A | 382-475 | PDB |
| 2FE5 | X-ray | 110 A | A | 223-314 | PDB |
| 2I1N | X-ray | 185 A | A/B | 126-222 | PDB |
| AF-Q92796-F1 | Predicted | AlphaFoldDB |
513 variants for Q92796
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002546355 RCV001329843 rs1410761133 RCV001572806 |
2 | H>P | Intellectual disability, X-linked 90 Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs778855350 RCV001266611 |
43 | G>V | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001008885 rs1602857000 RCV003117688 |
54 | Y>missing | Intellectual disability, X-linked 90 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001265685 rs2086555920 |
74 | K>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003146221 RCV001589692 rs2147765084 |
83 | G>E | Intellectual disability, X-linked 90 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs374006597 RCV001730060 |
84 | P>L | Intellectual disability, X-linked 90 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs11797456 RCV000082080 RCV000224309 RCV002311700 CA149161 |
102 | G>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001198396 rs759162614 |
114 | R>P | Intellectual disability, X-linked 90 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA413491302 RCV000624054 rs1241142887 |
117 | Y>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs990575779 RCV002312737 |
126 | M>T | Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA279937 rs864321655 RCV000203539 |
178 | G>W | Intellectual disability, X-linked 90 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001249426 CA413492357 RCV001563554 rs1213060424 RCV000624377 |
211 | R>* | DLG3-Related Disorder Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001252471 rs2086608421 |
318 | N>D | Intellectual disability [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA128783 rs398122846 RCV000022834 |
365 | T>missing | Intellectual disability, X-linked 90 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs749973560 RCV002464216 RCV000502437 CA10442073 |
380 | F>L | Intellectual disability, X-linked 90 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1190577 RCV001837051 rs775293712 COSM194968 |
427 | R>H | lung Intellectual disability, X-linked 90 Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs398122847 CA128784 RCV000022835 |
458 | S>* | Intellectual disability, X-linked 90 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000850216 rs1602880906 |
459 | V>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001814755 rs2147842078 |
483 | Q>* | Intellectual disability, X-linked 90 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1057519008 CA16043641 COSM1124501 COSM1599720 RCV000415247 |
490 | S>N | Variant assessed as Somatic; MODERATE impact. Epilepsy endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV003247008 rs987095691 RCV001754117 |
497 | R>Q | Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV001252470 rs2087371040 |
547 | R>K | Intellectual disability [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs149595793 RCV000209901 CA357184 RCV002517423 |
574 | R>Q | Intellectual disability, X-linked 90 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2087377266 RCV001260607 |
588 | E>* | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000895218 rs144335681 RCV002316096 |
594 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002541497 RCV002266032 rs1234828740 RCV001814739 |
748 | I>T | Intellectual disability, X-linked 90 Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV003485731 rs2147892965 RCV003237656 |
756 | R>* | Intellectual disability, X-linked 90 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs147529255 RCV001266937 |
767 | Y>C | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002245120 RCV003408177 rs2087576962 |
785 | V>A | DLG3-related condition [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
| rs1410761133 | 2 | H>R | No |
TOPMed gnomAD |
|
| rs1316661315 | 2 | H>Y | No |
1000Genomes TOPMed gnomAD |
|
| rs910976467 | 4 | H>Q | No |
TOPMed gnomAD |
|
| rs1219197335 | 6 | H>Q | No | gnomAD | |
| rs2086552938 | 6 | H>Y | No | gnomAD | |
| rs1299960764 | 9 | K>E | No | gnomAD | |
| rs1348046003 | 10 | C>Y | No | gnomAD | |
| rs1212569728 | 12 | E>G | No | gnomAD | |
|
RCV001269736 rs2086553104 |
14 | Y>* | No |
ClinVar Ensembl dbSNP |
|
| rs1482530043 | 18 | R>H | No |
TOPMed gnomAD |
|
| rs1482530043 | 18 | R>P | No |
TOPMed gnomAD |
|
| rs959740155 | 19 | L>P | No |
TOPMed gnomAD |
|
| rs1410921392 | 21 | A>D | No | TOPMed | |
| rs1476989063 | 21 | A>S | No | gnomAD | |
| rs1476989063 | 21 | A>T | No | gnomAD | |
| rs1183534699 | 22 | L>V | No |
TOPMed gnomAD |
|
| rs1473084619 | 24 | R>H | No | Ensembl | |
| rs1190607299 | 24 | R>S | No | gnomAD | |
| rs1395763698 | 25 | L>F | No | gnomAD | |
| rs1166810693 | 26 | E>A | No | gnomAD | |
| rs1166810693 | 26 | E>G | No | gnomAD | |
| rs1455594307 | 26 | E>K | No | gnomAD | |
| rs2041263825 | 28 | P>T | No | TOPMed | |
| rs1331256114 | 29 | G>S | No |
TOPMed gnomAD |
|
| rs1489124474 | 30 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs771173179 | 31 | G>C | No |
ExAC TOPMed gnomAD |
|
| rs771173179 | 31 | G>S | No |
ExAC TOPMed gnomAD |
|
|
rs1373830243 RCV001822849 |
32 | D>N | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs2086554038 | 36 | P>R | No | TOPMed | |
| rs759957195 | 36 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs914271007 | 37 | D>E | No | Ensembl | |
| rs1214851102 | 37 | D>N | No | gnomAD | |
| rs1292106142 | 38 | P>L | No |
TOPMed gnomAD |
|
| rs2086554130 | 38 | P>S | No | gnomAD | |
| rs1274846300 | 39 | Y>C | No | gnomAD | |
| rs1220564179 | 40 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
COSM32916 VAR_036591 rs1449722258 |
40 | G>R | large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] | No |
cosmic curated UniProt TOPMed dbSNP gnomAD |
| rs2086554400 | 41 | P>R | No | Ensembl | |
| rs1602856860 | 41 | P>T | No | Ensembl | |
| rs1253487870 | 42 | G>A | No |
TOPMed gnomAD |
|
| rs1253487870 | 42 | G>D | No |
TOPMed gnomAD |
|
|
rs2086554431 RCV001756230 |
42 | G>S | No |
ClinVar TOPMed dbSNP |
|
|
rs2086554538 RCV001249252 |
43 | G>missing | No |
ClinVar dbSNP |
|
| rs778855350 | 43 | G>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2086554658 | 44 | G>S | No | TOPMed | |
| rs1169925236 | 47 | A>G | No |
TOPMed gnomAD |
|
| rs1412066412 | 48 | S>G | No | gnomAD | |
| rs1602856937 | 48 | S>I | No | Ensembl | |
| rs775915913 | 48 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs1569266741 | 49 | A>G | No | Ensembl | |
| rs1397259350 | 50 | G>A | No |
TOPMed gnomAD |
|
| rs1166116291 | 50 | G>C | No | gnomAD | |
| rs1166116291 | 50 | G>S | No | gnomAD | |
| rs763609801 | 51 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs763609801 | 51 | Y>F | No |
ExAC TOPMed gnomAD |
|
| rs763609801 | 51 | Y>S | No |
ExAC TOPMed gnomAD |
|
| rs1347682459 | 52 | G>R | No | TOPMed | |
| TCGA novel | 53 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2147764894 RCV001892273 |
56 | S>T | No |
ClinVar Ensembl dbSNP |
|
| rs1317934571 | 57 | Q>H | No | gnomAD | |
| rs2086555139 | 57 | Q>R | No |
TOPMed gnomAD |
|
| rs764673027 | 58 | T>S | No |
ExAC gnomAD |
|
| rs2086555234 | 62 | Q>R | No | Ensembl | |
| rs1281898708 | 63 | A>T | No |
TOPMed gnomAD |
|
| rs2086555329 | 64 | G>R | No |
TOPMed gnomAD |
|
| rs990103562 | 65 | A>G | No | Ensembl | |
| rs760217541 | 65 | A>S | No |
ExAC gnomAD |
|
| rs760217541 | 65 | A>T | No |
ExAC gnomAD |
|
| rs766072313 | 66 | T>A | No |
ExAC TOPMed gnomAD |
|
|
CA238968 rs753368389 RCV000173514 |
66 | T>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs766072313 | 66 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs753368389 | 66 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs765001408 | 68 | T>P | No |
ExAC gnomAD |
|
| rs1418747139 | 68 | T>S | No | TOPMed | |
| rs2086555658 | 69 | P>A | No | TOPMed | |
| rs1247476222 | 69 | P>L | No |
TOPMed gnomAD |
|
| rs1247476222 | 69 | P>R | No |
TOPMed gnomAD |
|
| TCGA novel | 69 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4626591 COSM4626592 rs1195418769 |
70 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1235884793 | 71 | T>I | No | gnomAD | |
| rs1041633529 | 72 | K>N | No | Ensembl | |
| rs2147765031 | 74 | K>Q | No | Ensembl | |
| rs1456103985 | 75 | L>V | No | gnomAD | |
| rs2147765044 | 76 | I>L | No | Ensembl | |
| rs907098191 | 77 | P>H | No | TOPMed | |
| rs907098191 | 77 | P>L | No | TOPMed | |
| rs2147765056 | 78 | T>P | No | Ensembl | |
| rs1400725871 | 80 | R>L | No | gnomAD | |
| rs1400725871 | 80 | R>P | No | gnomAD | |
| rs1400725871 | 80 | R>Q | No | gnomAD | |
| rs2086556213 | 82 | V>L | No | TOPMed | |
| rs1199053677 | 87 | P>L | No | TOPMed | |
|
rs1569266884 RCV000723123 |
89 | P>K | No |
ClinVar Ensembl dbSNP |
|
| rs1413830249 | 89 | P>R | No | gnomAD | |
| rs1357198018 | 91 | P>R | No | gnomAD | |
| rs2086556533 | 93 | K>E | No | Ensembl | |
| rs2086556564 | 93 | K>R | No | TOPMed | |
| rs1487620004 | 94 | S>N | No | TOPMed | |
| rs746141766 | 95 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs746141766 | 95 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs770041632 | 96 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs749634953 | 97 | K>I | No |
ExAC gnomAD |
|
| rs749634953 | 97 | K>R | No |
ExAC gnomAD |
|
| rs774945210 | 98 | L>V | No |
ExAC gnomAD |
|
| rs1672887723 | 99 | N>K | No | TOPMed | |
|
RCV000523556 rs1260052688 CA413490877 |
100 | G>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs1364830156 | 103 | P>S | No | gnomAD | |
| rs1471461039 | 107 | P>S | No | gnomAD | |
| rs765875488 | 108 | E>Q | No |
ExAC gnomAD |
|
| rs2147765220 | 109 | C>F | No | Ensembl | |
| rs2147765213 | 109 | C>G | No | Ensembl | |
| rs776193643 | 110 | T>S | No |
ExAC gnomAD |
|
| rs2147765231 | 112 | T>P | No | Ensembl | |
| rs2086557178 | 113 | N>K | No | gnomAD | |
| rs866252799 | 114 | R>W | No | gnomAD | |
| rs1376899594 | 115 | D>E | No |
TOPMed gnomAD |
|
| rs1407700789 | 116 | W>* | No | gnomAD | |
| rs764913253 | 116 | W>C | No |
ExAC gnomAD |
|
| rs1336235545 | 117 | Y>C | No | gnomAD | |
| rs866776696 | 118 | E>* | No | Ensembl | |
| rs1484571232 | 122 | G>D | No | gnomAD | |
| rs763942240 | 123 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs751340777 | 126 | M>I | No |
ExAC gnomAD |
|
| rs990575779 | 126 | M>K | No |
TOPMed gnomAD |
|
|
rs182297323 RCV001806865 |
130 | E>D | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs2086592135 | 130 | E>G | No | gnomAD | |
| rs1416959650 | 131 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs140249987 | 133 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs2147769515 | 136 | R>M | No | Ensembl | |
| rs1189814831 | 137 | G>D | No | gnomAD | |
| rs774974502 | 142 | G>S | No |
ExAC gnomAD |
|
| rs1298307011 | 146 | A>T | No | TOPMed | |
| COSM1124489 | 148 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs774169484 | 149 | I>V | No |
ExAC gnomAD |
|
| rs1312434272 | 150 | D>N | No | gnomAD | |
|
COSM3914176 COSM3914177 |
152 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 152 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3563003 COSM3563002 |
153 | H>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750311987 | 154 | V>I | No | ExAC | |
| rs766625496 | 155 | P>S | No |
ExAC gnomAD |
|
| rs1224875275 | 158 | P>A | No | gnomAD | |
|
COSM4110750 COSM4110749 |
158 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2086596249 | 160 | I>V | No | TOPMed | |
| rs1307071790 | 165 | I>T | No | gnomAD | |
| TCGA novel | 166 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs755292432 | 173 | M>T | No |
ExAC gnomAD |
|
| rs779238940 | 176 | R>K | No |
ExAC gnomAD |
|
|
rs765570953 RCV001320758 |
179 | V>L | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs765570953 | 179 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs2086599292 | 182 | C>Y | No | TOPMed | |
| rs2147770338 | 188 | E>D | No | Ensembl | |
| rs1255118489 | 188 | E>V | No |
TOPMed gnomAD |
|
| rs750357993 | 191 | V>M | No | Ensembl | |
| rs751846954 | 192 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs975881791 | 195 | V>A | No | Ensembl | |
| rs1442639920 | 196 | H>Y | No |
TOPMed gnomAD |
|
| rs1569268932 | 197 | S>N | No | Ensembl | |
|
COSM6187512 COSM6187513 |
198 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs748814438 | 198 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
RCV001797222 rs2147770394 |
198 | R>W | No |
ClinVar Ensembl dbSNP |
|
| rs984580660 | 199 | A>V | No | TOPMed | |
| TCGA novel | 201 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2086599910 COSM4110751 COSM4110752 |
202 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
| TCGA novel | 207 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1332561170 | 207 | G>D | No | gnomAD | |
|
COSM4110753 COSM4110754 |
208 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3914179 COSM3914178 |
211 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1191130438 | 213 | V>L | No | gnomAD | |
| rs1188616963 | 215 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1475880597 | 215 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
COSM3973814 COSM3973815 |
217 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1416208495 | 217 | R>Q | No | gnomAD | |
| rs2086600413 | 218 | Q>E | No | TOPMed | |
| rs2147770479 | 218 | Q>H | No | Ensembl | |
| COSM1124490 | 219 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1473978177 | 220 | P>L | No | TOPMed | |
| rs758870192 | 221 | P>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs758870192 | 221 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1397329034 | 222 | E>K | No |
TOPMed gnomAD |
|
| rs1485517710 | 230 | L>P | No |
TOPMed gnomAD |
|
| rs1167605489 | 233 | P>S | No | gnomAD | |
| rs2086604141 | 239 | S>N | No | Ensembl | |
|
COSM3563007 COSM3563006 |
242 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs747584382 | 244 | I>V | No |
ExAC gnomAD |
|
| TCGA novel | 246 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2086604228 | 247 | Q>E | No |
TOPMed gnomAD |
|
| rs1301799705 | 250 | P>A | No | TOPMed | |
| rs1299586193 | 254 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1602867622 | 258 | T>P | No | Ensembl | |
| TCGA novel | 259 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141106519 RCV001570281 |
262 | E>D | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 262 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs144839135 | 263 | G>A | No |
ESP ExAC TOPMed gnomAD |
|
|
rs144839135 RCV001037120 |
263 | G>E | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1413885224 | 263 | G>R | No | gnomAD | |
| rs2086604489 | 264 | G>A | No | gnomAD | |
| rs2086604489 | 264 | G>V | No | gnomAD | |
| rs746816239 | 265 | A>T | No |
ExAC gnomAD |
|
| TCGA novel | 267 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2086604557 | 267 | Q>L | No | gnomAD | |
|
COSM272585 rs199927598 RCV003237655 |
271 | R>C | large_intestine [Cosmic] | No |
cosmic curated ClinVar 1000Genomes TOPMed dbSNP gnomAD |
| rs2086604582 | 271 | R>H | No | Ensembl | |
|
rs1368213856 RCV001561461 |
274 | I>T | No |
ClinVar TOPMed dbSNP gnomAD |
|
| TCGA novel | 277 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel rs2086604711 |
277 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
COSM4856289 COSM4856290 |
280 | A>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1485486750 COSM1331721 |
280 | A>V | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs1228615608 | 283 | N>T | No | TOPMed | |
| rs1602868436 | 284 | T>A | No | Ensembl | |
| rs1328020795 | 292 | E>K | No | gnomAD | |
| rs1328020795 | 292 | E>Q | No | gnomAD | |
|
COSM6119235 COSM6119236 |
292 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1449023273 | 300 | N>S | No | gnomAD | |
| rs2086607966 | 301 | T>I | No | Ensembl | |
| rs2086608005 | 303 | D>H | No | TOPMed | |
| rs1301395646 | 304 | M>I | No |
TOPMed gnomAD |
|
| rs766867754 | 312 | P>R | No |
1000Genomes ExAC gnomAD |
|
|
COSM4110757 COSM4110758 |
314 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1195604939 | 319 | D>N | No |
TOPMed gnomAD |
|
| rs1251815075 | 320 | M>I | No |
TOPMed gnomAD |
|
| rs2086608503 | 320 | M>T | No | TOPMed | |
| rs1440090650 | 322 | A>P | No |
TOPMed gnomAD |
|
| rs1440090650 | 322 | A>T | No |
TOPMed gnomAD |
|
|
TCGA novel rs2086608731 |
323 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs375913970 | 324 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1602868677 | 327 | A>T | No | TOPMed | |
| rs769800625 | 329 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs769800625 | 329 | T>P | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 335 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 336 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1369228494 | 337 | H>R | No |
TOPMed gnomAD |
|
| rs2086622244 | 338 | I>K | No | Ensembl | |
| rs760085776 | 339 | S>N | No |
ExAC gnomAD |
|
| COSM1331720 | 344 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs771175894 | 347 | L>F | No |
1000Genomes ExAC gnomAD |
|
| rs780951527 | 348 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1602871503 | 349 | A>S | No | Ensembl | |
| rs113526463 | 352 | S>G | No | Ensembl | |
| rs1383034329 | 352 | S>N | No | gnomAD | |
| rs750262400 | 357 | P>A | No | ExAC | |
| TCGA novel | 357 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2086622825 | 358 | A>T | No |
TOPMed gnomAD |
|
| rs1010429154 | 359 | P>A | No |
TOPMed gnomAD |
|
| rs1010429154 | 359 | P>S | No |
TOPMed gnomAD |
|
| rs780042282 | 360 | P>S | No |
ExAC gnomAD |
|
| rs1293152501 | 361 | Q>R | No | gnomAD | |
| rs749248121 | 362 | V>I | No |
ExAC gnomAD |
|
| rs749248121 | 362 | V>L | No |
ExAC gnomAD |
|
| rs768618351 | 363 | P>S | No |
ExAC gnomAD |
|
| rs1484682781 | 364 | P>L | No | gnomAD | |
| rs2086623225 | 365 | T>A | No | TOPMed | |
| rs398122846 | 365 | T>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2086623260 | 365 | T>N | No | TOPMed | |
| rs2086623225 | 365 | T>P | No | TOPMed | |
| rs968826501 | 366 | R>C | No |
TOPMed gnomAD |
|
| rs968826501 | 366 | R>G | No |
TOPMed gnomAD |
|
| rs772307487 | 366 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs773366659 | 367 | Y>C | No |
ExAC gnomAD |
|
| rs2147773403 | 367 | Y>D | No | Ensembl | |
| rs1435151291 | 371 | P>L | No | TOPMed | |
| rs771267930 | 372 | R>G | No |
ExAC gnomAD |
|
| rs777042818 | 372 | R>K | No |
ExAC gnomAD |
|
| rs760009278 | 374 | M>L | No |
ExAC gnomAD |
|
| rs371335260 | 375 | L>V | No |
ESP ExAC gnomAD |
|
| rs1362704858 | 376 | A>V | No |
TOPMed gnomAD |
|
| rs2086623852 | 378 | E>K | No | Ensembl | |
| rs760115307 | 379 | D>A | No |
1000Genomes ExAC gnomAD |
|
| rs767288426 | 379 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1046132404 | 382 | R>G | No | Ensembl | |
| rs868827465 | 382 | R>K | No | Ensembl | |
|
COSM3424913 COSM3424912 COSM3424914 rs2086653246 |
385 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
|
COSM3940092 COSM3940093 rs1400341652 COSM3940091 |
385 | R>H | Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
RCV000500347 CA413494980 rs1555961844 |
391 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1284854476 | 394 | T>R | No | gnomAD | |
|
COSM3563012 COSM3563010 COSM3563011 |
395 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1124493 COSM1599666 |
395 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1124494 COSM1599665 |
404 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1358474797 | 406 | G>R | No | gnomAD | |
| rs770542378 | 408 | G>S | No |
ExAC gnomAD |
|
| rs1219207586 | 417 | G>A | No | gnomAD | |
| rs370773747 | 421 | D>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1485623367 | 424 | G>E | No |
TOPMed gnomAD |
|
| rs971783743 | 427 | R>C | No |
TOPMed gnomAD |
|
| rs775293712 | 427 | R>L | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 429 | G>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751447328 | 431 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
COSM1599664 COSM1124495 |
434 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1439920151 | 437 | G>E | No | gnomAD | |
| rs1490493783 | 438 | V>M | No | TOPMed | |
| rs1180055964 | 439 | N>H | No | gnomAD | |
| rs1232171050 | 442 | N>D | No |
TOPMed gnomAD |
|
| rs745344573 | 444 | T>I | No |
ExAC gnomAD |
|
| rs1202257436 | 448 | A>G | No |
TOPMed gnomAD |
|
| TCGA novel | 450 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs942541567 | 451 | A>S | No | Ensembl | |
| rs749085371 | 454 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs769457554 | 454 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs768558801 | 456 | G>C | No |
ExAC TOPMed gnomAD |
|
| rs768558801 | 456 | G>S | No |
ExAC TOPMed gnomAD |
|
|
rs2086662769 RCV001268398 |
457 | Q>missing | No |
ClinVar dbSNP |
|
| rs761856095 | 458 | S>T | No |
ExAC gnomAD |
|
| rs1377828532 | 461 | I>T | No |
TOPMed gnomAD |
|
| rs767324184 | 462 | V>A | No |
ExAC gnomAD |
|
|
CA208859 rs371545673 RCV000194596 |
463 | A>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1488271620 | 466 | R>G | No |
TOPMed gnomAD |
|
| rs374740363 | 468 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 469 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1373266091 RCV001320228 |
469 | E>K | No |
ClinVar TOPMed dbSNP |
|
| rs2087109629 | 471 | S>G | No | Ensembl | |
| rs2087109697 | 471 | S>N | No |
TOPMed gnomAD |
|
| rs1016058521 | 472 | R>C | No | TOPMed | |
| rs747855598 | 472 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
|
COSM4826942 COSM4826940 COSM4826941 |
474 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs953325312 COSM1599663 COSM1124499 |
475 | S>L | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs776663320 | 477 | I>L | No | Ensembl | |
|
RCV001172015 rs776663320 |
477 | I>V | No |
ClinVar Ensembl dbSNP |
|
| rs773219809 | 478 | H>Y | No |
ExAC TOPMed gnomAD |
|
|
COSM194973 rs1028686595 |
481 | R>* | Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 482 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2087110315 | 483 | Q>L | No | Ensembl | |
| rs766629119 | 485 | M>I | No |
ExAC gnomAD |
|
| rs2087110385 | 485 | M>L | No | gnomAD | |
| rs954485249 | 486 | N>H | No | TOPMed | |
| rs776831262 | 486 | N>S | No |
ExAC gnomAD |
|
| rs111728051 | 488 | S>G | No | Ensembl | |
| rs1751893981 | 489 | M>V | No | gnomAD | |
|
RCV001763755 rs2147842219 |
492 | G>E | No |
ClinVar Ensembl dbSNP |
|
| rs1228853521 | 497 | R>* | No |
TOPMed gnomAD |
|
| rs2147842286 | 499 | S>R | No | 1000Genomes | |
|
COSM3914182 COSM3914181 COSM3914180 |
503 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1569285680 | 505 | Y>C | No | Ensembl | |
| rs1299231555 | 509 | L>V | No | gnomAD | |
| rs371936236 | 514 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1309948313 | 516 | R>Q | No |
TOPMed gnomAD |
|
| rs770964321 | 516 | R>W | No |
ExAC gnomAD |
|
| rs2087370549 | 517 | D>N | No | gnomAD | |
| TCGA novel | 535 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 544 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2147872478 | 545 | Q>H | No | Ensembl | |
| rs2147872490 | 546 | A>S | No | Ensembl | |
| rs2147872490 | 546 | A>T | No | Ensembl | |
| rs1320518910 | 549 | V>G | No | gnomAD | |
|
rs1000766823 COSM1599719 COSM1124502 |
553 | G>R | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| rs1397581879 | 555 | S>I | No |
TOPMed gnomAD |
|
| TCGA novel | 556 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759488099 | 558 | I>M | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 559 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 569 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 570 | K>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1314310887 | 573 | A>T | No | gnomAD | |
| COSM176195 | 574 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2087376957 | 582 | A>G | No | Ensembl | |
| rs777755684 | 584 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 588 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 590 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2087436780 | 592 | D>E | No | TOPMed | |
| rs144335681 | 594 | P>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 594 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 594 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs748419701 | 595 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs748419701 | 595 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs773484485 | 597 | S>N | No |
ExAC TOPMed gnomAD |
|
|
RCV000520981 CA10442264 rs747352979 |
599 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs2087437713 | 601 | Y>H | No | Ensembl | |
| TCGA novel | 601 | Y>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1447342613 | 603 | A>T | No | gnomAD | |
| rs1284901412 | 604 | K>N | No | gnomAD | |
| TCGA novel | 604 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs35913736 | 606 | L>M | No | gnomAD | |
| rs35913736 | 606 | L>V | No | gnomAD | |
|
COSM3914183 COSM3914185 COSM3914184 |
608 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs376147129 | 609 | Q>P | No |
ESP gnomAD |
|
| rs781677957 | 610 | E>D | No |
ExAC TOPMed |
|
|
CA16621480 RCV000481818 rs1064794376 |
610 | E>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1064795788 RCV000484905 CA16621481 |
611 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1173033265 | 612 | A>T | No |
TOPMed gnomAD |
|
| rs949843405 | 618 | P>A | No |
TOPMed gnomAD |
|
| rs2087497514 | 619 | V>A | No |
TOPMed gnomAD |
|
| rs1410799794 | 620 | T>R | No |
TOPMed gnomAD |
|
| rs2087497683 | 621 | R>G | No | Ensembl | |
| rs2147887211 | 621 | R>L | No | Ensembl | |
| rs747614852 | 624 | I>T | No |
ExAC gnomAD |
|
| rs1327804543 | 625 | H>R | No | Ensembl | |
|
rs2147888795 RCV002247143 |
627 | A>S | No |
ClinVar Ensembl dbSNP |
|
| rs771677239 | 627 | A>V | No |
ExAC gnomAD |
|
| rs2147888876 | 634 | G>C | No | Ensembl | |
|
COSM1599716 COSM1124505 |
634 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1229007331 | 635 | P>S | No | gnomAD | |
| rs2087511573 | 636 | M>V | No | Ensembl | |
|
COSM1599715 COSM1124506 |
638 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2087511728 | 639 | R>Q | No | TOPMed | |
|
COSM4110765 COSM4110763 COSM4110764 |
642 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs776434226 | 645 | I>N | No | ExAC | |
| rs2087512165 | 647 | E>K | No | Ensembl | |
| rs2087512252 | 650 | H>Y | No | TOPMed | |
| rs2087512340 | 653 | G>R | No | Ensembl | |
| rs1293747729 | 655 | C>R | No | gnomAD | |
| rs762790001 | 658 | H>Y | No |
ExAC gnomAD |
|
|
rs746456093 RCV001592163 |
661 | R>W | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs770588314 | 663 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs770588314 | 663 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1388935744 | 664 | R>C | No | TOPMed | |
| rs1486834464 | 664 | R>H | No | gnomAD | |
| rs768137722 | 666 | N>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1408271185 | 677 | V>M | No | gnomAD | |
|
rs1602991098 RCV001007998 |
679 | R>* | No |
ClinVar Ensembl dbSNP |
|
|
COSM1331719 COSM1331718 |
680 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM6187510 COSM6187511 COSM6187509 |
682 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 683 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs753131039 | 684 | K>Q | No |
1000Genomes ExAC gnomAD |
|
|
COSM3914188 COSM3914186 COSM3914187 |
687 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2087525775 | 687 | Q>H | No | Ensembl | |
| rs2147890639 | 689 | N>D | No | Ensembl | |
| rs1039356451 | 690 | K>M | No | TOPMed | |
| rs368491947 | 690 | K>N | No |
ESP ExAC gnomAD |
|
| rs1039356451 | 690 | K>R | No | TOPMed | |
|
COSM1599714 COSM1124507 |
694 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM422508 COSM1133868 |
699 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 700 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1465036476 | 710 | R>W | No |
TOPMed gnomAD |
|
| TCGA novel | 713 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs188750177 | 714 | E>D | No |
1000Genomes TOPMed gnomAD |
|
| rs1431807567 | 716 | G>D | No | gnomAD | |
| rs1378749704 | 717 | K>E | No | gnomAD | |
| rs1469838262 | 718 | H>P | No | gnomAD | |
| TCGA novel | 728 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1445666374 | 728 | I>N | No | gnomAD | |
| rs1445666374 | 728 | I>T | No | gnomAD | |
| TCGA novel | 735 | Q>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs769297189 | 736 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs769297189 | 736 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs1300460121 | 738 | P>L | No | gnomAD | |
| rs553913083 | 738 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs748982676 | 740 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs1225407018 | 742 | F>L | No | gnomAD | |
| rs1256303878 | 743 | I>V | No | gnomAD | |
| rs761838470 | 750 | A>T | No |
ExAC gnomAD |
|
| rs1191021236 | 750 | A>V | No | gnomAD | |
| rs1215792586 | 752 | M>K | No | gnomAD | |
| rs1215792586 | 752 | M>T | No | gnomAD | |
| rs1602993344 | 756 | R>Q | No | Ensembl | |
| TCGA novel | 757 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000153153 rs727503900 CA233902 |
760 | Y>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
| rs2087544093 | 760 | Y>C | No | TOPMed | |
| rs1320194449 | 763 | A>E | No |
TOPMed gnomAD |
|
| rs1320194449 | 763 | A>V | No |
TOPMed gnomAD |
|
| rs749893387 | 766 | I>F | No |
ExAC gnomAD |
|
| rs143215760 | 766 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2087544728 | 766 | I>T | No | gnomAD | |
| rs749113054 | 768 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1263126554 | 768 | D>N | No | gnomAD | |
| rs1186640748 | 769 | K>R | No | gnomAD | |
| rs1421183888 | 770 | A>T | No | gnomAD | |
| rs768402030 | 770 | A>V | No |
ExAC gnomAD |
|
| rs1426334958 | 771 | M>I | No | gnomAD | |
| rs752490212 | 771 | M>V | No |
1000Genomes ExAC gnomAD |
|
| rs1426356509 | 775 | Q>H | No |
TOPMed gnomAD |
|
| rs1296216262 | 775 | Q>K | No | gnomAD | |
|
COSM6119233 COSM6119232 COSM6119234 |
776 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1431542673 | 778 | G>A | No | gnomAD | |
| rs112949063 | 781 | F>S | No | Ensembl | |
| rs1366087308 | 782 | T>A | No |
TOPMed gnomAD |
|
| rs933729909 | 783 | A>T | No | TOPMed | |
| rs1452029969 | 785 | V>L | No | gnomAD | |
| rs1337588390 | 786 | Q>P | No |
TOPMed gnomAD |
|
| rs1337588390 | 786 | Q>R | No |
TOPMed gnomAD |
|
| rs1385309054 | 787 | G>D | No | gnomAD | |
| rs2087577171 | 787 | G>S | No | TOPMed | |
| rs1238405207 | 788 | D>N | No | gnomAD | |
|
COSM1491200 COSM1491201 COSM5231131 |
789 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1460123440 | 791 | E>G | No |
TOPMed gnomAD |
|
| rs1309068657 | 792 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
COSM1599713 COSM1124508 |
793 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs752447600 | 793 | I>N | No | Ensembl | |
| rs749944840 | 794 | Y>F | No |
ExAC gnomAD |
|
| rs1277135766 | 795 | N>T | No | gnomAD | |
| rs755509015 | 796 | K>R | No |
ExAC gnomAD |
|
| rs1345491142 | 801 | I>T | No |
TOPMed gnomAD |
|
| rs779610493 | 803 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs1176541062 | 804 | Q>H | No | gnomAD | |
|
COSM3563020 COSM3563022 COSM3563021 |
805 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs753489184 | 812 | P>S | No |
ExAC gnomAD |
|
| rs753489184 | 812 | P>T | No |
ExAC gnomAD |
|
|
rs140208240 RCV001822852 |
813 | S>F | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
1 associated diseases with Q92796
[MIM: 300850]: Intellectual developmental disorder, X-linked 90 (XLID90)
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked intellectual disability, while syndromic forms presents with associated physical, neurological and/or psychiatric manifestations. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked intellectual disability, while syndromic forms presents with associated physical, neurological and/or psychiatric manifestations. . Note=The disease is caused by variants affecting the gene represented in this entry.
10 regional properties for Q92796
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | SH3 domain | 501 - 571 | IPR001452 |
| domain | PDZ domain | 131 - 218 | IPR001478-1 |
| domain | PDZ domain | 224 - 313 | IPR001478-2 |
| domain | PDZ domain | 384 - 467 | IPR001478-3 |
| domain | Guanylate kinase-like domain | 627 - 802 | IPR008144 |
| domain | Guanylate kinase/L-type calcium channel beta subunit | 626 - 805 | IPR008145 |
| domain | Disks large homolog 1-4, PDZ-associated domain | 311 - 385 | IPR019583 |
| domain | Disks large homologue 1, N-terminal PEST domain | 49 - 130 | IPR019590 |
| conserved_site | Guanylate kinase, conserved site | 659 - 676 | IPR020590 |
| domain | Disks Large homologue 3, SH3 domain | 502 - 568 | IPR035763 |
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
| AMPA glutamate receptor complex | An assembly of four or five subunits which form a structure with an extracellular N-terminus and a large loop that together form the ligand binding domain. The C-terminus is intracellular. The ionotropic glutamate receptor complex itself acts as a ligand gated ion channel; on binding glutamate, charged ions pass through a channel in the center of the receptor complex. The AMPA receptors mediate fast synaptic transmission in the CNS and are composed of subunits GluR1-4, products from separate genes. These subunits have an extracellular N-terminus and an intracellular C-terminus. |
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| bicellular tight junction | An occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet; the outer leaflets of the two interacting plasma membranes are seen to be tightly apposed where sealing strands are present. Each sealing strand is composed of a long row of transmembrane adhesion proteins embedded in each of the two interacting plasma membranes. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| neuromuscular junction | The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| postsynaptic density membrane | The membrane component of the postsynaptic density. This is the region of the postsynaptic membrane in which the population of neurotransmitter receptors involved in synaptic transmission are concentrated. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| kinase binding | Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group. |
| phosphatase binding | Binding to a phosphatase. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| cell-cell adhesion | The attachment of one cell to another cell via adhesion molecules. |
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| embryo development | The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. |
| establishment of planar polarity | Coordinated organization of groups of cells in the plane of an epithelium, such that they all orient to similar coordinates. |
| establishment or maintenance of epithelial cell apical/basal polarity | Any cellular process that results in the specification, formation or maintenance of the apicobasal polarity of an epithelial cell. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| positive regulation of protein tyrosine kinase activity | Any process that increases the rate, frequency, or extent of protein tyrosine kinase activity. |
| receptor clustering | The receptor metabolic process that results in grouping of a set of receptors at a cellular location, often to amplify the sensitivity of a signaling response. |
| receptor localization to synapse | Any process in which a receptor is transported to, and/or maintained at the synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. |
| regulation of postsynaptic membrane neurotransmitter receptor levels | Any process that regulates the the local concentration of neurotransmitter receptor at the postsynaptic membrane. |
21 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P31007 | dlg1 | Disks large 1 tumor suppressor protein | Drosophila melanogaster (Fruit fly) | EV |
| Q9BXL7 | CARD11 | Caspase recruitment domain-containing protein 11 | Homo sapiens (Human) | EV |
| Q12959 | DLG1 | Disks large homolog 1 | Homo sapiens (Human) | SS |
| P78352 | DLG4 | Disks large homolog 4 | Homo sapiens (Human) | SS |
| Q15700 | DLG2 | Disks large homolog 2 | Homo sapiens (Human) | SS |
| Q96NW7 | LRRC7 | Leucine-rich repeat-containing protein 7 | Homo sapiens (Human) | PR |
| Q62108 | Dlg4 | Disks large homolog 4 | Mus musculus (Mouse) | SS |
| Q8CIS0 | Card11 | Caspase recruitment domain-containing protein 11 | Mus musculus (Mouse) | SS |
| Q99KF0 | Card14 | Caspase recruitment domain-containing protein 14 | Mus musculus (Mouse) | PR |
| Q811D0 | Dlg1 | Disks large homolog 1 | Mus musculus (Mouse) | SS |
| Q91XM9 | Dlg2 | Disks large homolog 2 | Mus musculus (Mouse) | SS |
| P70175 | Dlg3 | Disks large homolog 3 | Mus musculus (Mouse) | SS |
| Q63622 | Dlg2 | Disks large homolog 2 | Rattus norvegicus (Rat) | EV |
| Q62696 | Dlg1 | Disks large homolog 1 | Rattus norvegicus (Rat) | SS |
| P31016 | Dlg4 | Disks large homolog 4 | Rattus norvegicus (Rat) | SS |
| Q62936 | Dlg3 | Disks large homolog 3 | Rattus norvegicus (Rat) | SS |
| G5ECY0 | dlg-1 | Disks large homolog 1 | Caenorhabditis elegans | SS |
| Q28C55 | dlg1 | Disks large homolog 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
| Q6R005 | dlg4 | Disks large homolog 4 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q5PYH5 | dlg1l | Discs large homolog 1-like protein | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q5PYH7 | dlg2 | Disks large homolog 2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MHKHQHCCKC | PECYEVTRLA | ALRRLEPPGY | GDWQVPDPYG | PGGGNGASAG | YGGYSSQTLP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SQAGATPTPR | TKAKLIPTGR | DVGPVPPKPV | PGKSTPKLNG | SGPSWWPECT | CTNRDWYEQV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NGSDGMFKYE | EIVLERGNSG | LGFSIAGGID | NPHVPDDPGI | FITKIIPGGA | AAMDGRLGVN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DCVLRVNEVD | VSEVVHSRAV | EALKEAGPVV | RLVVRRRQPP | PETIMEVNLL | KGPKGLGFSI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AGGIGNQHIP | GDNSIYITKI | IEGGAAQKDG | RLQIGDRLLA | VNNTNLQDVR | HEEAVASLKN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TSDMVYLKVA | KPGSLHLNDM | YAPPDYASTF | TALADNHISH | NSSLGYLGAV | ESKVSYPAPP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QVPPTRYSPI | PRHMLAEEDF | TREPRKIILH | KGSTGLGFNI | VGGEDGEGIF | VSFILAGGPA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DLSGELRRGD | RILSVNGVNL | RNATHEQAAA | ALKRAGQSVT | IVAQYRPEEY | SRFESKIHDL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| REQMMNSSMS | SGSGSLRTSE | KRSLYVRALF | DYDRTRDSCL | PSQGLSFSYG | DILHVINASD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DEWWQARLVT | PHGESEQIGV | IPSKKRVEKK | ERARLKTVKF | HARTGMIESN | RDFPGLSDDY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| YGAKNLKGQE | DAILSYEPVT | RQEIHYARPV | IILGPMKDRV | NDDLISEFPH | KFGSCVPHTT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RPRRDNEVDG | QDYHFVVSRE | QMEKDIQDNK | FIEAGQFNDN | LYGTSIQSVR | AVAERGKHCI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LDVSGNAIKR | LQQAQLYPIA | IFIKPKSIEA | LMEMNRRQTY | EQANKIYDKA | MKLEQEFGEY |
| 790 | 800 | 810 | |||
| FTAIVQGDSL | EEIYNKIKQI | IEDQSGHYIW | VPSPEKL |