Q8NBL1
PR
Gene name |
POGLUT1 |
Protein name |
Protein O-glucosyltransferase 1 |
Names |
CAP10-like 46 kDa protein, hCLP46, KTEL motif-containing protein 1, Myelodysplastic syndromes relative protein, O-glucosyltransferase Rumi homolog, hRumi, Protein O-xylosyltransferase POGLUT1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56983 |
EC number |
2.4.1.376: Hexosyltransferases |
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
293 variants for Q8NBL1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000114419 CA151188 rs587777293 RCV002515788 |
4 | W>* | Dowling-degos disease 4 (ddd4) Dowling-Degos disease 4 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003166569 RCV001249240 CA81691979 rs1001425015 |
71 | G>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs770097304 RCV000811719 RCV002537360 CA2554788 |
83 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_077954 rs1454300079 CA354041968 |
170 | G>E | DDD4 [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
RCV000760636 RCV002290007 rs1560034617 CA354042275 |
184 | W>* | Autosomal recessive limb-girdle muscular dystrophy type 2R1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587777294 RCV000820407 RCV000114420 COSM1036741 CA151190 |
218 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium Dowling-degos disease 4 (ddd4) Dowling-Degos disease 4 [NCI-TCGA, Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
| VAR_077955 | 218 | R>del | DDD4 [UniProt] | Yes | UniProt |
|
VAR_077956 CA16044172 RCV000412593 rs550944082 |
233 | D>E | Autosomal recessive limb-girdle muscular dystrophy type 2R1 LGMDR21; reduced glucosyltransferase and xylosyltransferase activities; impaired Notch signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs776985194 RCV000792335 CA2554994 RCV002536938 |
274 | V>I | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs587777296 RCV000114422 |
279 | R>missing | Dowling-Degos disease 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002513945 rs587777297 CA151194 RCV000114423 |
279 | R>W | Dowling-degos disease 4 (ddd4) Dowling-Degos disease 4 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_077957 | 286 | C>Y | DDD4 [UniProt] | Yes | UniProt |
|
CA354033936 rs1370998540 |
2 | E>G | No |
ClinGen gnomAD |
|
|
CA81691278 rs371557773 |
2 | E>K | No |
ClinGen Ensembl |
|
|
rs1222931405 CA354033990 |
3 | W>C | No |
ClinGen gnomAD |
|
|
rs1361094422 CA354034015 |
4 | W>* | No |
ClinGen gnomAD |
|
|
CA81691284 rs587777293 |
4 | W>L | Dowling-degos disease 4 (ddd4) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
rs780361314 CA2554696 |
5 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA354034037 rs1437882515 |
6 | S>C | No |
ClinGen gnomAD |
|
|
CA2554697 rs749876526 |
6 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354034063 rs1468926334 |
7 | S>* | No |
ClinGen gnomAD |
|
|
rs1468926334 CA354034065 |
7 | S>L | No |
ClinGen gnomAD |
|
|
rs543487150 CA354034085 |
8 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs543487150 CA2554701 |
8 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2554703 rs760044064 |
9 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759575578 CA2554706 |
13 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA354034227 rs1352634929 |
15 | L>V | No |
ClinGen gnomAD |
|
|
rs1445805736 CA354034269 |
16 | F>L | No |
ClinGen gnomAD |
|
|
CA81691326 rs1044808432 |
18 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2554709 rs758217795 |
19 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354034314 rs1220012234 |
19 | P>S | No |
ClinGen TOPMed |
|
|
rs1275735394 CA354034349 |
21 | A>G | No |
ClinGen gnomAD |
|
|
CA81691333 rs898134695 |
22 | Q>R | No |
ClinGen gnomAD |
|
|
CA2554713 rs780241513 |
23 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2554714 rs749739928 |
24 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354034427 rs749739928 |
24 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354034439 rs1182054366 |
25 | Q>* | No |
ClinGen gnomAD |
|
|
rs761544019 CA2554748 |
29 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA354034868 rs1489837901 |
32 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA354034831 rs1455836737 |
32 | W>G | No |
ClinGen TOPMed |
|
|
CA354034829 rs1455836737 |
32 | W>R | No |
ClinGen TOPMed |
|
| TCGA novel | 33 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1221722566 CA354034888 |
33 | K>Q | No |
ClinGen gnomAD |
|
|
rs188263536 CA2554751 |
36 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1397761488 CA354035080 |
39 | I>S | No |
ClinGen gnomAD |
|
|
rs905479545 CA81691585 |
40 | N>S | No |
ClinGen Ensembl |
|
|
CA81691590 rs375158410 |
45 | N>K | No |
ClinGen Ensembl |
|
|
CA81691588 rs555496988 |
45 | N>S | No |
ClinGen Ensembl |
|
|
CA2554753 rs753241179 RCV001346979 |
46 | Y>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA354035289 rs1320007837 |
48 | P>S | No |
ClinGen gnomAD |
|
|
CA354035299 rs1244087462 |
49 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA354035298 rs1244087462 |
49 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA81691591 rs903948828 |
50 | S>L | No |
ClinGen TOPMed |
|
|
rs747354887 CA2554756 |
51 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA354035418 COSM1212915 rs1196643929 |
54 | C>Y | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs757581170 CA2554757 |
55 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185123117 CA354035479 |
56 | C>Y | No |
ClinGen gnomAD |
|
|
rs745522007 CA2554759 |
57 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA81691594 rs892636160 |
58 | H>R | No |
ClinGen TOPMed |
|
|
rs200523009 CA2554760 |
59 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200523009 CA81691596 |
59 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1044423933 CA81691969 |
60 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 60 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2554778 rs755805606 |
61 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 63 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354036370 rs1277500942 |
67 | P>R | No |
ClinGen gnomAD |
|
|
RCV001269615 rs905629792 CA81691971 |
69 | R>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA2554779 rs779712185 |
69 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA81691978 rs907146593 |
70 | G>R | No |
ClinGen TOPMed |
|
|
CA2554780 rs748751205 |
71 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA354036449 rs1366225939 |
72 | I>M | No |
ClinGen gnomAD |
|
|
rs778846060 CA2554782 |
72 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs11556605 CA81691983 VAR_027041 |
75 | K>R | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA354036517 rs748103545 |
76 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs771885260 CA2554784 |
76 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748103545 CA2554783 |
76 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1193407518 CA354036551 |
77 | M>T | No |
ClinGen gnomAD |
|
|
CA2554785 rs773187042 |
78 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417960546 CA354036672 |
80 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1347125448 CA354036658 |
80 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 81 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297614037 CA354036724 |
82 | R>K | No |
ClinGen gnomAD |
|
|
rs1297614037 CA354036728 |
82 | R>T | No |
ClinGen gnomAD |
|
|
COSM241208 CA2554787 rs759796888 |
83 | R>W | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs775877723 CA2554789 |
86 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA354036818 rs1272985309 |
86 | G>R | No |
ClinGen gnomAD |
|
|
CA354036848 rs1224063909 |
87 | T>S | No |
ClinGen gnomAD |
|
|
rs1316418005 CA354036860 |
88 | H>L | No |
ClinGen gnomAD |
|
|
CA2554790 rs763068507 |
90 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1351003586 CA354036925 |
91 | I>F | No |
ClinGen gnomAD |
|
|
rs1560029704 CA354037039 |
95 | R>S | No |
ClinGen Ensembl |
|
|
CA354037064 rs1179034360 |
96 | L>P | No |
ClinGen TOPMed |
|
|
CA2554794 rs762277732 |
98 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2554796 rs756493199 |
98 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2554795 rs762277732 |
98 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354037185 rs374962958 |
101 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 101 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1560029736 CA354037175 |
101 | D>H | No |
ClinGen Ensembl |
|
|
CA2554799 rs754509454 |
102 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 103 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2554819 rs545259436 |
109 | S>G | No |
ClinGen 1000Genomes |
|
|
CA2554821 rs563452424 |
109 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354039967 rs1413130441 |
110 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA354039965 rs1413130441 |
110 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 110 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs996542777 CA81697795 |
112 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs757945203 CA2554823 |
113 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 114 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397930464 CA354040045 |
116 | L>* | No |
ClinGen gnomAD |
|
|
rs777794845 CA2554824 |
117 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746947147 CA2554825 |
119 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA354040159 rs1483482018 |
120 | G>E | No |
ClinGen TOPMed |
|
|
CA2554826 rs757112530 |
120 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2554828 rs369098373 |
121 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2554829 RCV001066501 rs147674217 |
121 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA81697805 rs369098373 |
121 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 122 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354040302 rs1260542304 |
126 | E>K | No |
ClinGen gnomAD |
|
|
CA81697809 rs1015531524 |
129 | I>T | No |
ClinGen TOPMed |
|
|
rs960212367 CA81697810 |
130 | N>S | No |
ClinGen TOPMed |
|
|
CA2554833 rs200892608 |
131 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200892608 CA81697811 |
131 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2554832 rs572594675 |
131 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140695299 RCV003135073 CA2554834 |
132 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA354040490 rs140695299 |
132 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766709782 CA2554835 |
132 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1475780822 CA354040569 |
134 | Y>* | No |
ClinGen gnomAD |
|
|
CA2554836 rs374990390 |
136 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1464929067 CA354040645 |
137 | V>I | No |
ClinGen gnomAD |
|
|
rs1176836370 CA354040666 |
138 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA354040734 rs1453603805 |
140 | W>R | No |
ClinGen TOPMed |
|
|
rs1161423477 CA354040797 |
141 | M>I | No |
ClinGen TOPMed |
|
|
CA354040769 rs1451668050 |
141 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA354040821 rs1412451711 |
143 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA81697819 rs142488195 |
143 | P>H | No |
ClinGen Ensembl |
|
|
CA354040823 rs1412451711 |
143 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs764743275 CA2554838 |
144 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2554839 rs752408002 |
144 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339025241 CA354040908 |
146 | P>L | No |
ClinGen gnomAD |
|
|
CA354040968 rs1264199019 |
149 | S>F | No |
ClinGen gnomAD |
|
|
rs528041638 CA2554842 |
150 | F>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2554843 rs147356960 |
150 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1447670807 CA354041011 |
151 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA354041046 rs1218825036 |
152 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA354041456 rs1222996500 |
153 | T>S | No |
ClinGen TOPMed |
|
|
rs573568710 CA2554889 |
154 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354041519 rs1368042938 |
156 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2554890 rs751780827 |
156 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447369774 CA354041532 |
157 | H>D | No |
ClinGen TOPMed |
|
|
CA354041541 rs1298765184 |
157 | H>R | No |
ClinGen gnomAD |
|
|
CA354041577 rs1311209478 |
158 | D>G | No |
ClinGen gnomAD |
|
|
CA2554892 rs757279029 |
159 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA2554894 rs746337310 |
160 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2554893 rs781389819 |
160 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200272198 CA81698743 |
164 | W>G | No |
ClinGen Ensembl |
|
|
CA2554897 rs749609281 |
170 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs769146700 CA2554899 |
176 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2554900 rs774143508 |
179 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA354042170 rs1399334290 |
180 | G>S | No |
ClinGen TOPMed |
|
|
rs907482149 CA81698761 |
181 | L>F | No |
ClinGen TOPMed |
|
|
rs903353097 CA81698767 |
182 | G>R | No |
ClinGen gnomAD |
|
|
RCV000805793 CA2554903 rs189569196 |
183 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs566241791 CA2554902 |
183 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2554904 rs760137937 |
187 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA354042395 rs1241413631 |
188 | R>S | No |
ClinGen TOPMed |
|
|
rs766287545 CA354042426 |
190 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766287545 COSM402340 CA2554905 |
190 | D>Y | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
RCV001344591 rs2081589523 |
192 | V>L | No |
ClinVar dbSNP |
|
|
rs1445549698 CA354044954 |
196 | A>V | No |
ClinGen gnomAD |
|
|
CA354045063 rs1230600821 |
199 | P>R | No |
ClinGen gnomAD |
|
|
rs866489520 CA81701207 |
199 | P>T | No |
ClinGen Ensembl |
|
|
rs747726965 CA2554923 |
200 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA2554924 RCV000954611 rs142565532 |
201 | K>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2554925 rs772758729 |
204 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs746467283 CA2554926 |
205 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2554927 rs549455603 |
206 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 207 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776542098 CA2554928 |
210 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA354045336 rs776542098 |
210 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1238181348 CA354045345 |
210 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1238181348 CA354045342 |
210 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs994319416 CA81701224 |
211 | G>R | No |
ClinGen TOPMed |
|
|
CA354045382 rs1473814025 |
212 | S>* | No |
ClinGen gnomAD |
|
|
rs565282776 CA2554938 |
215 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1195740692 CA354045660 |
218 | R>P | No |
ClinGen gnomAD |
|
| TCGA novel | 218 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA81701764 rs948615823 |
219 | D>E | No |
ClinGen gnomAD |
|
|
CA2554939 rs753060209 |
219 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs758701006 CA2554940 |
220 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs898982892 CA354045709 |
222 | I>F | No |
ClinGen gnomAD |
|
|
rs898982892 CA81701768 |
222 | I>V | No |
ClinGen gnomAD |
|
|
rs777415429 CA2554941 |
223 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs117423733 CA2554943 |
226 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746703230 CA2554942 |
226 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401205444 CA354045803 |
227 | K>R | No |
ClinGen gnomAD |
|
|
rs1300579820 CA354045822 |
228 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA81701783 VAR_027042 rs17852785 |
229 | P>T | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs780728548 CA2554944 |
230 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1275699008 CA354045909 |
235 | E>G | No |
ClinGen gnomAD |
|
|
CA354045977 rs1207985944 |
240 | Q>E | No |
ClinGen gnomAD |
|
|
rs1347451407 CA354045989 |
241 | A>S | No |
ClinGen gnomAD |
|
|
rs375450836 CA2554948 |
242 | W>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs769677500 CA2554947 |
242 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218715596 CA354046051 CA354046049 |
245 | M>I | No |
ClinGen gnomAD |
|
|
rs368566548 RCV000822447 CA2554949 |
245 | M>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA81702732 rs1047644819 |
252 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA354046653 rs1047644819 |
252 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1294564533 CA354046717 |
257 | V>I | No |
ClinGen TOPMed |
|
|
rs769131679 CA2554968 |
259 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393339524 CA354046756 |
260 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA354046778 rs1577087366 |
262 | H>N | No |
ClinGen Ensembl |
|
|
CA354046798 rs1460150675 |
263 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 265 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2554989 rs754834771 |
266 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs780036147 CA2554969 |
266 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747897279 CA2554992 |
272 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771994224 CA2554993 |
272 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA81703548 rs932169354 |
274 | V>A | No |
ClinGen Ensembl |
|
|
rs775468670 CA81703552 |
275 | A>V | No |
ClinGen Ensembl |
|
|
CA354047073 rs1393955569 |
276 | A>P | No |
ClinGen TOPMed |
|
|
CA354047074 rs1393955569 |
276 | A>S | No |
ClinGen TOPMed |
|
|
CA81703554 rs986335602 |
279 | R>Q | No |
ClinGen gnomAD |
|
|
RCV001217887 rs2081732162 |
282 | H>L | No |
ClinVar dbSNP |
|
| TCGA novel | 283 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354047204 rs1168619200 |
285 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs774934277 CA2554999 |
294 | G>A | No |
ClinGen ExAC |
|
|
CA2555001 rs767928085 |
299 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs200220297 CA2555000 |
299 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs750057101 CA2555004 |
300 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA354047458 rs766090624 |
301 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2555007 rs753241408 |
302 | Y>F | No |
ClinGen ExAC |
|
|
CA354047478 rs1257210688 |
303 | P>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 307 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA81703634 rs892175865 |
308 | W>L | No |
ClinGen Ensembl |
|
|
rs763045710 CA2555008 |
308 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA354047563 rs1577088637 |
309 | V>G | No |
ClinGen Ensembl |
|
|
CA354047551 rs1277641334 |
309 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 310 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1000750271 CA81703643 |
310 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2555010 rs778653026 |
313 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA81703651 rs949265784 |
314 | V>I | No |
ClinGen TOPMed |
|
|
rs1487066041 CA354047678 |
316 | T>I | No |
ClinGen gnomAD |
|
|
rs751882927 CA81703655 |
317 | D>V | No |
ClinGen Ensembl |
|
|
CA81703657 rs1046376265 |
318 | L>V | No |
ClinGen gnomAD |
|
|
rs1434044180 CA354047751 |
319 | S>F | No |
ClinGen gnomAD |
|
|
rs748159363 CA2555011 |
320 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA2555012 rs758250783 |
320 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2555023 rs773528494 |
323 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs535554982 CA354048663 |
326 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2555026 rs535554982 |
326 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2555025 rs535554982 |
326 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1350254981 CA354048674 |
326 | Q>R | No |
ClinGen gnomAD |
|
|
CA2555028 rs369732121 |
328 | V>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA354048837 rs1296142257 |
331 | N>K | No |
ClinGen TOPMed |
|
|
CA2555029 rs566030449 |
334 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758447511 CA2555030 |
335 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA354048915 rs1451133076 |
335 | A>V | No |
ClinGen gnomAD |
|
|
CA354048928 rs1161535903 |
336 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1365137182 CA354048937 |
336 | Q>P | No |
ClinGen TOPMed |
|
|
CA354049004 rs779727116 |
338 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 338 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777882653 CA2555031 |
338 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2555044 rs759278927 |
344 | Q>L | No |
ClinGen ExAC |
|
| TCGA novel | 344 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1440771819 CA354049418 |
348 | N>H | No |
ClinGen gnomAD |
|
|
rs905335304 CA81704374 |
348 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2555045 rs764806253 |
348 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354049481 rs1366312526 |
351 | Q>* | No |
ClinGen gnomAD |
|
|
CA354049488 rs1235660629 |
351 | Q>R | No |
ClinGen gnomAD |
|
|
CA2555046 rs752211135 |
355 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1219483406 CA354049597 |
356 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA354049614 rs1192170907 |
357 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA354049626 rs1487016760 |
358 | Y>N | No |
ClinGen TOPMed |
|
|
CA354049686 rs1577089935 |
361 | N>S | No |
ClinGen Ensembl |
|
|
CA354049746 rs756990598 CA2555050 |
365 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1032533684 CA81704389 |
369 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
RCV000973647 CA2555053 rs114296047 |
371 | S>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2555054 rs187183254 |
373 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354049908 rs748170466 |
375 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748170466 CA2555055 COSM728063 |
375 | T>M | lung Variant assessed as Somatic; 0.0 impact. prostate [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2555057 rs778252006 |
376 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA81704422 rs75565212 |
377 | R>G | No |
ClinGen Ensembl |
|
|
CA2555058 rs747605822 |
379 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA354049963 rs747605822 |
379 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA2555059 rs377392047 |
381 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2555060 rs370784795 RCV001232916 |
383 | I>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs921108483 CA81704452 |
384 | I>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 386 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2555061 rs147559897 |
387 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1577090047 CA354050110 |
387 | M>T | No |
ClinGen Ensembl |
|
|
rs894888474 CA81704463 |
390 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2555064 rs775293342 |
393 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs142667293 CA2555066 |
393 | L>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
2 associated diseases with Q8NBL1
[MIM: 615696]: Dowling-Degos disease 4 (DDD4)
A form of Dowling-Degos disease, a genodermatosis manifesting with postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. DDD4 is characterized by prominent involvement of non-flexural skin areas. {ECO:0000269|PubMed:24387993, ECO:0000269|PubMed:27479915}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 617232]: Muscular dystrophy, limb-girdle, autosomal recessive 21 (LGMDR21)
A form of autosomal recessive limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMDR21 is characterized by young-adult onset. {ECO:0000269|PubMed:27807076}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of Dowling-Degos disease, a genodermatosis manifesting with postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. DDD4 is characterized by prominent involvement of non-flexural skin areas. {ECO:0000269|PubMed:24387993, ECO:0000269|PubMed:27479915}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of autosomal recessive limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMDR21 is characterized by young-adult onset. {ECO:0000269|PubMed:27807076}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q8NBL1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Glycosyl transferase CAP10 domain | 50 - 388 | IPR006598 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.1.376 | Hexosyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| endomembrane system | A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum lumen | The volume enclosed by the membranes of the endoplasmic reticulum. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| EGF-domain serine glucosyltransferase activity | Catalysis of the reaction: UDP-alpha-D-glucose + -3-O-(beta-D-glucosyl)-L-serine. |
| EGF-domain serine xylosyltransferase activity | Catalyses the reaction: UDP-alpha-D-xylose + -3-O-(beta-D-xylosyl)-L-serine. |
| glucosyltransferase activity | Catalysis of the transfer of a glucosyl group to an acceptor molecule, typically another carbohydrate or a lipid. |
| UDP-glucosyltransferase activity | Catalysis of the transfer of a glucosyl group from UDP-glucose to an acceptor molecule. |
| UDP-xylosyltransferase activity | Catalysis of the transfer of a xylosyl group from UDP-xylose to an acceptor molecule. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| axial mesoderm development | The process whose specific outcome is the progression of the axial mesoderm over time, from its formation to the mature structure. The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord. |
| circulatory system development | The process whose specific outcome is the progression of the circulatory system over time, from its formation to the mature structure. The circulatory system is the organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. |
| gastrulation | A complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. |
| muscle tissue development | The progression of muscle tissue over time, from its initial formation to its mature state. Muscle tissue is a contractile tissue made up of actin and myosin fibers. |
| paraxial mesoderm development | The process whose specific outcome is the progression of the paraxial mesoderm over time, from its formation to the mature structure. The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube. |
| positive regulation of Notch signaling pathway | Any process that activates or increases the frequency, rate or extent of the Notch signaling pathway. |
| protein O-linked glycosylation | A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. |
| protein O-linked glycosylation via serine | The glycosylation of protein via the O3 atom of peptidyl-serine, forming O3-glycosyl-L-serine; the most common forms are N-acetylgalactosaminyl, mannosyl, galactosyl, and xylosyl serine. |
| regulation of gastrulation | Any process that modulates the rate or extent of gastrulation. Gastrulation is the complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. |
| somitogenesis | The formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEWWASSPLR | LWLLLFLLPS | AQGRQKESGS | KWKVFIDQIN | RSLENYEPCS | SQNCSCYHGV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IEEDLTPFRG | GISRKMMAEV | VRRKLGTHYQ | ITKNRLYREN | DCMFPSRCSG | VEHFILEVIG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RLPDMEMVIN | VRDYPQVPKW | MEPAIPVFSF | SKTSEYHDIM | YPAWTFWEGG | PAVWPIYPTG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LGRWDLFRED | LVRSAAQWPW | KKKNSTAYFR | GSRTSPERDP | LILLSRKNPK | LVDAEYTKNQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AWKSMKDTLG | KPAAKDVHLV | DHCKYKYLFN | FRGVAASFRF | KHLFLCGSLV | FHVGDEWLEF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FYPQLKPWVH | YIPVKTDLSN | VQELLQFVKA | NDDVAQEIAE | RGSQFIRNHL | QMDDITCYWE |
| 370 | 380 | 390 | |||
| NLLSEYSKFL | SYNVTRRKGY | DQIIPKMLKT | EL |