Q9Y5I7
PR
Gene name |
CLDN16 (PCLN1) |
Protein name |
Claudin-16 |
Names |
Paracellin-1, PCLN-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10686 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9Y5I7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y5I7-F1 | Predicted | AlphaFoldDB |
243 variants for Q9Y5I7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs104893724 RCV000006292 |
1 | M>R | Primary hypomagnesemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs104893724 RCV001329583 |
1 | M>T | Primary hypomagnesemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000310282 rs867514971 CA10618255 |
6 | Q>P | Primary hypomagnesemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001150244 rs145118503 CA2753728 |
8 | I>V | Primary hypomagnesemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000285445 rs886058244 |
13 | A>C | Primary hypomagnesemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000974602 RCV000346413 CA2753733 rs149116671 |
15 | F>L | Primary hypomagnesemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA355762677 RCV001195722 rs1293775732 |
23 | A>T | Renal hypomagnesemia 5 with ocular involvement [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002484254 rs761873372 CA2753741 RCV001230173 |
36 | S>P | Primary hypomagnesemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs104893732 TCGA novel CA117870 RCV000006300 |
47 | W>* | Primary hypomagnesemia Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl dbSNP NCI-TCGA |
|
RCV001520212 RCV000371570 RCV000345256 rs368234054 |
56 | D>missing | Primary hypomagnesemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000390314 RCV001520213 rs3214506 RCV000616416 |
56 | D>P | Primary hypomagnesemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2753786 rs765256758 RCV000656736 |
69 | A>V | Variant assessed as Somatic; 0.0 impact. Primary hypomagnesemia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_017228 | 71 | H>D | HOMG3 [UniProt] | Yes | UniProt |
|
VAR_017229 CA117869 RCV001851694 RCV000006299 rs104893731 |
75 | L>P | Primary hypomagnesemia HOMG3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002512826 rs104893720 CA117857 RCV000006288 |
79 | R>* | Primary hypomagnesemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs968906940 VAR_017230 CA355765992 |
79 | R>L | HOMG3 [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
RCV001093267 rs104893729 VAR_017231 CA117867 RCV000006297 |
81 | L>F | Primary hypomagnesemia HOMG3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
| VAR_017232 | 81 | L>P | HOMG3 [UniProt] | Yes | UniProt |
|
VAR_017233 RCV000006298 CA117868 rs104893730 |
81 | L>W | Primary hypomagnesemia HOMG3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1719051110 RCV001263013 |
95 | T>missing | Primary hypomagnesemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000006293 CA117863 rs104893725 VAR_008174 |
97 | L>P | Primary hypomagnesemia HOMG3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1253995767 RCV000656737 |
113 | K>N* | Primary hypomagnesemia [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_008175 CA117860 rs104893722 RCV000006290 |
121 | G>R | Primary hypomagnesemia HOMG3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_017234 | 128 | G>A | HOMG3 [UniProt] | Yes | UniProt |
|
rs104893723 RCV000006291 CA117861 VAR_008176 |
128 | G>D | Primary hypomagnesemia HOMG3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000987375 CA355766290 rs1577430815 |
128 | G>R | Primary hypomagnesemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2753862 rs138308105 RCV001245388 RCV002564094 |
131 | G>A | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000678491 CA355766931 rs138308105 |
131 | G>E | Primary hypomagnesemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_017235 CA355766978 rs1270704258 |
139 | A>T | HOMG3 [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
RCV001093268 CA2753875 RCV003142041 rs772241737 |
146 | R>H | Variant assessed as Somatic; 0.0 impact. Primary hypomagnesemia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
| VAR_017236 | 146 | R>T | HOMG3 [UniProt] | Yes | UniProt |
|
RCV001281173 CA2753877 rs201367228 RCV001879805 RCV002570440 |
153 | N>S | Primary hypomagnesemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000505624 rs1553809654 |
157 | G>missing | Primary hypomagnesemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000662319 VAR_008177 RCV000006294 CA117864 rs104893726 |
162 | F>C | Nephrocalcinosis Primary hypomagnesemia HOMG3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs104893727 RCV000006295 VAR_008178 CA117865 |
163 | G>D | Primary hypomagnesemia HOMG3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA117866 rs104893728 VAR_008179 RCV000006296 |
165 | S>F | Primary hypomagnesemia HOMG3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
| VAR_017237 | 165 | S>P | HOMG3 [UniProt] | Yes | UniProt |
|
RCV001851693 rs104893721 RCV000006289 VAR_008172 CA117859 |
169 | G>R | Primary hypomagnesemia HOMG3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV002032364 rs139251569 CA2753890 RCV001144096 |
180 | G>A | Primary hypomagnesemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1719228589 RCV001144099 |
199 | Y>C | Primary hypomagnesemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs387906880 CA129189 RCV000023358 |
205 | K>* | Primary hypomagnesemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs121908543 CA117874 RCV000006303 |
207 | Y>* | Primary hypomagnesemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000905980 RCV000260809 CA2753920 rs35041121 |
207 | Y>C | Primary hypomagnesemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM377636 RCV001144100 RCV000886541 rs139846352 CA2753921 |
209 | A>D | lung Primary hypomagnesemia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2753923 rs549642537 RCV001144101 |
210 | A>T | Variant assessed as Somatic; 0.0 impact. Primary hypomagnesemia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs756192568 RCV000297264 CA2753934 |
224 | E>K | Primary hypomagnesemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs121908542 CA117872 RCV000006302 |
233 | T>R | Hypercalciuria, childhood, self-limiting [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2753724 rs372525072 |
2 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1482253091 CA355762556 |
3 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 4 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199775812 CA355762559 |
4 | L>I | No |
ClinGen gnomAD |
|
|
CA355762565 rs199839143 |
5 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199839143 CA2753725 |
5 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368215264 CA2753727 |
7 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs375640819 CA2753726 |
7 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355762583 rs145118503 |
8 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355762588 rs965435011 |
9 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA89750156 rs965435011 |
9 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs778198632 CA2753731 |
10 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2753730 rs769827846 |
10 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1297905947 CA355762603 |
11 | F>C | No |
ClinGen gnomAD |
|
|
CA2753732 rs749819466 |
11 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA89750168 rs1020861027 |
13 | A>D | No |
ClinGen Ensembl |
|
|
rs977137021 CA89750160 |
13 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1181105329 CA355762648 |
18 | G>E | No |
ClinGen TOPMed |
|
|
CA2753735 rs759868163 |
20 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771742472 RCV001326131 CA2753736 |
21 | I>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA355762698 rs1254188095 |
26 | T>S | No |
ClinGen TOPMed |
|
|
RCV000483531 rs1064795763 CA16617861 |
29 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs545693736 CA89750201 |
30 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2753738 rs545693736 |
30 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753777323 CA2753740 |
34 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268061294 CA355762837 |
37 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs751220222 RCV000933533 |
38 | E>= | No |
ClinVar dbSNP |
|
|
CA355765389 rs1190419654 |
39 | V>A | No |
ClinGen TOPMed |
|
|
rs1278876951 CA355765385 |
39 | V>L | No |
ClinGen gnomAD |
|
|
CA2753765 rs142152395 |
40 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355765405 rs1264612767 |
40 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2753766 rs764353770 |
41 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA355765430 rs1321219881 |
42 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 42 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753901053 CA2753767 |
44 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2753768 rs757395583 |
44 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 46 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355765483 rs146727044 |
47 | W>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs146727044 CA89761085 |
47 | W>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA355765530 rs1430185772 |
50 | C>R | No |
ClinGen TOPMed |
|
|
CA2753769 rs149965853 |
50 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA89761095 rs920823997 |
51 | V>I | No |
ClinGen gnomAD |
|
|
CA2753771 rs758739389 |
54 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA89761104 rs61752083 |
54 | A>V | No |
ClinGen gnomAD |
|
|
rs144105475 CA2753775 |
55 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747440607 CA2753773 |
55 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1055737562 CA89761111 |
56 | D>E | No |
ClinGen Ensembl |
|
|
CA2753776 rs747654138 |
57 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1444245867 CA355765660 |
59 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs762831659 CA2753779 |
59 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1233586538 CA355765693 |
62 | D>N | No |
ClinGen gnomAD |
|
|
rs759388455 CA2753782 |
63 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2753781 rs773999256 |
63 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA355765708 rs773999256 |
63 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2753784 rs199651054 |
64 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1208605810 CA355765745 |
65 | D>A | No |
ClinGen gnomAD |
|
|
rs950141430 CA89761184 |
65 | D>E | No |
ClinGen Ensembl |
|
|
rs761824865 CA2753785 |
65 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA355765774 rs1257324344 |
67 | I>M | No |
ClinGen gnomAD |
|
|
CA355765777 rs1474818508 |
68 | L>F | No |
ClinGen TOPMed |
|
|
CA355765814 rs758799163 |
70 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA355765839 rs1477588982 |
72 | P>L | No |
ClinGen gnomAD |
|
|
rs1350393472 CA355765984 |
77 | V>G | No |
ClinGen gnomAD |
|
|
rs771816868 CA2753817 |
78 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA89763237 rs968906940 |
79 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2753819 rs769893284 |
80 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355765997 rs769893284 |
80 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195405538 CA355766007 |
82 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA355766015 rs1452788815 |
83 | I>T | No |
ClinGen gnomAD |
|
|
CA2753822 rs774947384 |
83 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355766023 rs1158867345 |
84 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA355766028 rs1386707552 |
85 | A>G | No |
ClinGen gnomAD |
|
|
CA355766043 rs1371063500 |
87 | I>M | No |
ClinGen gnomAD |
|
|
rs911369572 CA89763276 |
87 | I>T | No |
ClinGen gnomAD |
|
|
CA355766039 rs1403200551 |
87 | I>V | No |
ClinGen gnomAD |
|
|
rs527990106 CA2753824 |
89 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1577430719 CA355766057 |
90 | G>E | No |
ClinGen Ensembl |
|
|
rs1335620169 CA355766070 |
92 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 93 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355766077 rs1326395870 |
93 | F>Y | No |
ClinGen TOPMed |
|
|
rs763587706 CA2753827 |
96 | L>R | No |
ClinGen ExAC |
|
|
CA355766112 rs1273948471 |
99 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2753829 rs756674166 |
100 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1469870064 CA355766116 |
100 | L>V | No |
ClinGen gnomAD |
|
|
rs944275084 CA89763316 |
101 | D>Y | No |
ClinGen TOPMed |
|
|
CA89763322 rs547537371 |
102 | C>* | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1419689384 CA355766136 |
103 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 105 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2753830 rs778427772 |
106 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs745420355 CA355766174 |
108 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140829596 CA2753832 |
110 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2753833 rs567783618 |
111 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1275570743 CA355766201 |
112 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1462564694 CA355766196 |
112 | I>V | No |
ClinGen gnomAD |
|
|
rs376431300 CA2753835 |
113 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA658821523 rs1253995767 |
113 | K>N | No |
ClinGen TOPMed |
|
|
rs370413403 CA2753836 |
113 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2753837 rs536714046 |
114 | V>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA355766213 rs929948127 |
115 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2753839 rs556413628 |
115 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs556413628 CA2753838 |
115 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA89763349 rs929948127 |
115 | R>S | No |
ClinGen gnomAD |
|
|
rs768135151 CA2753841 |
116 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1316949011 CA355766223 |
117 | C>R | No |
ClinGen TOPMed |
|
|
RCV001038625 rs1719054513 |
119 | V>F | No |
ClinVar dbSNP |
|
|
rs1216704349 CA355766244 |
120 | A>T | No |
ClinGen gnomAD |
|
|
rs1048501191 CA89763363 |
123 | T>A | No |
ClinGen TOPMed |
|
|
rs1480328199 CA355766265 |
123 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1007522348 CA89763380 |
125 | L>P | No |
ClinGen TOPMed |
|
|
rs373189371 CA89763393 |
126 | I>M | No |
ClinGen Ensembl |
|
|
rs104893723 CA355766914 |
128 | G>V | No |
ClinGen gnomAD |
|
|
rs1202664145 CA355766919 |
129 | T>N | No |
ClinGen TOPMed |
|
|
rs1261570205 CA355766945 |
133 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs570616277 CA2753865 |
135 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570616277 CA2753864 |
135 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765895243 CA2753867 |
137 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs544158479 CA2753868 |
138 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA355766985 rs1376923358 |
140 | V>L | No |
ClinGen gnomAD |
|
|
CA2753871 rs752533102 |
143 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs753223645 CA2753872 |
144 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371258878 CA2753873 |
145 | E>K | No |
ClinGen ESP ExAC |
|
|
rs758946923 CA2753874 |
146 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2753876 rs780153615 |
148 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1281243864 CA355767035 |
148 | T>N | No |
ClinGen gnomAD |
|
|
rs1453710173 CA355767043 |
149 | L>F | No |
ClinGen TOPMed |
|
|
rs1302134732 CA355767048 |
150 | V>D | No |
ClinGen gnomAD |
|
|
rs1577432849 CA355767056 |
151 | L>F | No |
ClinGen Ensembl |
|
|
rs1408388959 CA355767054 |
151 | L>S | No |
ClinGen TOPMed |
|
|
CA355767059 rs1329454729 |
152 | H>D | No |
ClinGen TOPMed |
|
|
CA355767078 rs1260497925 |
154 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs769190460 CA2753878 |
154 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA355767089 rs1170178042 |
156 | L>F | No |
ClinGen TOPMed |
|
|
CA355767115 rs1298030528 |
160 | Y>H | No |
ClinGen gnomAD |
|
|
CA355767138 rs1577432872 |
163 | G>C | No |
ClinGen Ensembl |
|
|
rs1182563283 CA355767147 |
164 | W>L | No |
ClinGen TOPMed |
|
|
rs104893728 CA355767154 |
165 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1453219704 CA355767168 |
167 | W>S | No |
ClinGen gnomAD |
|
|
CA2753881 rs543523352 |
168 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs104893721 CA355767179 |
169 | G>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 169 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2753884 rs751056950 |
172 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA355767225 rs1577432896 |
173 | S>A | No |
ClinGen Ensembl |
|
|
rs1345543207 CA355767228 |
173 | S>C | No |
ClinGen gnomAD |
|
|
rs1345543207 CA355767226 |
173 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 174 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 178 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777745636 CA2753889 |
178 | L>S | No |
ClinGen ExAC |
|
|
CA355767355 rs201641346 |
182 | V>F | No |
ClinGen gnomAD |
|
|
CA89766420 rs201641346 |
182 | V>I | No |
ClinGen gnomAD |
|
|
CA2753892 rs780195981 |
184 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1317860117 CA355767393 |
185 | C>S | No |
ClinGen gnomAD |
|
|
rs747105311 CA2753893 |
187 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1312786315 CA355767464 |
188 | Y>C | No |
ClinGen gnomAD |
|
|
CA2753894 rs143097871 |
188 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA89766439 rs1035298979 |
189 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 190 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781678462 CA2753895 |
190 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1210040068 CA355767520 |
191 | K>R | No |
ClinGen gnomAD |
|
|
CA2753912 rs766553260 |
192 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA355768205 rs1416877202 |
193 | V>G | No |
ClinGen gnomAD |
|
|
rs751740742 CA2753913 |
194 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA2753914 rs755033066 |
195 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA355768261 rs748266585 CA2753916 |
196 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756589441 CA2753917 |
197 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA355768353 rs1404996591 |
201 | Y>D | No |
ClinGen TOPMed |
|
|
rs1411885209 CA355768389 |
202 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 202 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2753918 rs387906880 |
205 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs539967883 CA2753919 |
206 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1415814850 CA355768464 |
206 | A>V | No |
ClinGen gnomAD |
|
|
rs1338030534 CA355768499 |
208 | S>L | No |
ClinGen gnomAD |
|
|
rs764121096 CA2753926 |
212 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs760321632 CA2753925 |
212 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA355768567 rs776710987 |
213 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2753927 rs776710987 |
213 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1475042783 CA355768574 |
214 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 218 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764960055 CA2753929 |
219 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2753930 rs371465699 |
220 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1560100409 CA355768690 |
221 | P>A | No |
ClinGen Ensembl |
|
|
rs141823638 CA2753931 |
221 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2753932 rs200023201 |
222 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2753933 rs752758478 |
222 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1193820441 CA355768728 |
224 | E>G | No |
ClinGen TOPMed |
|
|
rs374751726 CA2753935 |
225 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2753936 rs749782586 |
226 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1276759277 CA355768764 |
227 | K>E | No |
ClinGen gnomAD |
|
|
rs1276759277 CA355768763 |
227 | K>Q | No |
ClinGen gnomAD |
|
|
CA355768766 rs1366697751 |
227 | K>R | No |
ClinGen gnomAD |
|
|
CA355768777 rs1231476372 |
228 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA355768779 rs1231476372 |
228 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2753939 rs150621351 |
230 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746297543 CA2753940 |
233 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1193773094 CA355768849 |
234 | R>K | No |
ClinGen gnomAD |
|
|
CA355768865 rs1249854366 |
235 | V>L | No |
ClinGen gnomAD |
|
|
rs1191842560 CA355768882 |
236 | V>Y | No |
ClinGen gnomAD |
No associated diseases with Q9Y5I7
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| magnesium ion transmembrane transporter activity | Enables the transfer of magnesium (Mg) ions from one side of a membrane to the other. |
| structural molecule activity | The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| bicellular tight junction assembly | The aggregation, arrangement and bonding together of a set of components to form a 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. |
| calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules | The attachment of one cell to another cell via adhesion molecules that do not require the presence of calcium for the interaction. |
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| cellular metal ion homeostasis | Any process involved in the maintenance of an internal steady state of metal ions at the level of a cell. |
| intercellular transport | The movement of substances between cells. |
| metal ion transport | The directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRDLLQYIAC | FFAFFSAGFL | IVATWTDCWM | VNADDSLEVS | TKCRGLWWEC | VTNAFDGIRT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CDEYDSILAE | HPLKLVVTRA | LMITADILAG | FGFLTLLLGL | DCVKFLPDEP | YIKVRICFVA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GATLLIAGTP | GIIGSVWYAV | DVYVERSTLV | LHNIFLGIQY | KFGWSCWLGM | AGSLGCFLAG |
| 190 | 200 | 210 | 220 | 230 | |
| AVLTCCLYLF | KDVGPERNYP | YSLRKAYSAA | GVSMAKSYSA | PRTETAKMYA | VDTRV |