Q8N8M0
Gene name |
NAT16 (C7orf52) |
Protein name |
Probable N-acetyltransferase 16 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:375607 |
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 Q8N8M0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N8M0-F1 | Predicted | AlphaFoldDB |
401 variants for Q8N8M0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs532463604 CA368649749 |
2 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767752008 CA4406832 |
5 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4406829 rs141768939 |
11 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1231213480 CA368649626 |
13 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA163370814 rs373678437 |
13 | E>K | No |
ClinGen ESP |
|
|
CA368649608 rs1333807517 |
15 | P>L | No |
ClinGen gnomAD |
|
|
rs773603616 CA4406827 |
16 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs143939241 CA4406822 |
17 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4406823 rs143939241 |
17 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146332959 CA4406825 |
17 | P>S | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA4406824 rs146332959 |
17 | P>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1398168711 CA368649571 |
19 | K>E | No |
ClinGen gnomAD |
|
|
rs555118087 CA4406820 |
21 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199889473 CA4406819 |
22 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199889473 CA4406818 |
22 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1584222266 CA368649526 |
23 | R>Q | No |
ClinGen Ensembl |
|
|
rs755819266 CA4406817 |
24 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752553136 CA4406816 |
25 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867086471 CA163370802 |
25 | A>V | No |
ClinGen Ensembl |
|
|
CA4406814 rs767662024 |
27 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566267507 CA4406813 |
28 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA368649476 rs1438527641 |
28 | S>N | No |
ClinGen gnomAD |
|
|
CA163370790 rs200993465 |
29 | S>F | No |
ClinGen Ensembl |
|
|
CA368649430 rs1240117858 |
31 | T>I | No |
ClinGen gnomAD |
|
|
CA368649434 rs1240117858 |
31 | T>N | No |
ClinGen gnomAD |
|
|
rs1584222212 CA368649442 |
31 | T>P | No |
ClinGen Ensembl |
|
|
rs766494955 CA4406811 |
32 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1273528974 CA368649420 |
33 | P>T | No |
ClinGen gnomAD |
|
|
CA4406810 rs763485972 |
34 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA368649400 rs1434832979 |
35 | E>* | No |
ClinGen TOPMed |
|
|
CA4406808 rs369470948 |
36 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368649357 rs1445725552 |
38 | A>V | No |
ClinGen Ensembl |
|
|
rs1239697931 CA368649353 |
39 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1239697931 CA368649354 |
39 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs200814753 CA4406806 |
40 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1199000 CA368649338 rs1323341352 |
40 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1323341352 CA368649341 |
40 | P>T | No |
ClinGen gnomAD |
|
|
rs1326961991 CA368649329 |
41 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA368649327 rs1326961991 |
41 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA368649318 rs1307656509 COSM1446818 |
42 | S>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA163370757 rs969687102 |
43 | G>* | No |
ClinGen gnomAD |
|
|
CA368649311 rs969687102 |
43 | G>R | No |
ClinGen gnomAD |
|
|
CA163370756 rs868016095 |
44 | S>L | No |
ClinGen TOPMed |
|
|
CA4406803 rs778539700 |
45 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs756791990 CA4406802 |
46 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 47 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748856557 CA4406801 |
48 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA368649252 rs1253938608 |
49 | E>A | No |
ClinGen gnomAD |
|
|
CA4406800 rs777517613 |
49 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 49 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4406799 rs756085636 |
50 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755170919 CA4406796 |
51 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762892730 CA4406793 |
52 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs766619515 CA4406794 |
52 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4406791 rs765594961 |
54 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774424411 CA163370713 COSM743521 |
56 | V>A | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA368649174 rs1324983267 |
56 | V>M | No |
ClinGen gnomAD |
|
|
rs148986263 CA4406789 |
59 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765929180 CA163370701 |
60 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4406787 rs765929180 |
60 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774102605 CA368649128 |
61 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4406786 rs774102605 |
61 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459459616 CA368649111 |
63 | F>L | No |
ClinGen gnomAD |
|
|
rs34985488 VAR_036903 CA4406785 |
63 | F>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1562874738 CA368649097 |
64 | E>K | No |
ClinGen Ensembl |
|
|
CA163370665 rs888719265 |
65 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA4406784 rs748682002 |
66 | V>E | No |
ClinGen ExAC |
|
|
CA4406781 rs748166096 |
68 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4406778 rs751377393 |
69 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA368649037 rs1280133277 |
69 | I>M | No |
ClinGen gnomAD |
|
|
rs1562874715 CA368649040 |
69 | I>T | No |
ClinGen Ensembl |
|
|
rs1212398263 CA368649027 |
70 | S>L | No |
ClinGen gnomAD |
|
|
CA4406775 rs750463591 |
71 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs201666132 CA4406774 |
72 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368649017 rs1401059973 |
72 | G>S | No |
ClinGen gnomAD |
|
|
rs201666132 CA4406773 |
72 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1310036075 CA368649008 |
73 | I>L | No |
ClinGen gnomAD |
|
|
rs764724362 CA4406770 |
73 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4406767 rs770488727 |
74 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA4406768 rs199835653 |
74 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199835653 CA163370630 |
74 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4406769 rs761066274 |
74 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs762726335 CA4406766 |
77 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4406765 rs772576785 |
79 | Y>S | No |
ClinGen ExAC |
|
|
rs769386646 CA4406764 |
81 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1041018030 CA163370619 |
84 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1041018030 CA368648895 |
84 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4406761 rs768594896 |
87 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA368648825 rs373407624 |
89 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4406760 rs373407624 |
89 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 89 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779964441 CA4406759 |
90 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA368648808 rs141085888 |
91 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4406757 rs141085888 |
91 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757315538 CA4406755 |
92 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4406753 rs764632562 |
93 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA4406754 rs764632562 |
93 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1448395607 CA368648781 |
94 | T>K | No |
ClinGen gnomAD |
|
|
rs1304625905 CA368648769 |
95 | V>A | No |
ClinGen gnomAD |
|
|
rs1380587012 CA368648775 |
95 | V>L | No |
ClinGen gnomAD |
|
|
CA368648763 rs1360699824 |
96 | V>L | No |
ClinGen gnomAD |
|
|
CA4406751 rs374694349 |
97 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4406750 rs374694349 |
97 | L>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4406749 rs762482160 |
99 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA368648739 rs762482160 |
99 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA163370576 rs925908745 |
99 | K>M | No |
ClinGen gnomAD |
|
|
rs1396458548 CA368648724 |
100 | R>C | No |
ClinGen TOPMed |
|
|
rs371229816 CA4406748 |
100 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA163370568 rs371229816 |
100 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1396458548 CA368648729 |
100 | R>S | No |
ClinGen TOPMed |
|
|
CA368648712 rs761254836 CA4406746 |
101 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA4406745 rs776121685 |
102 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA368648696 rs1415928277 |
104 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA4406706 rs369492361 |
109 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368647963 rs369492361 |
109 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1296087606 CA368647969 |
109 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs767489413 CA4406705 |
110 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs544430736 CA4406704 |
111 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1226983129 CA368647940 |
112 | V>M | No |
ClinGen gnomAD |
|
|
CA368647926 rs1197547539 |
113 | I>F | No |
ClinGen TOPMed |
|
|
rs762874878 CA4406701 |
114 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762874878 CA4406702 |
114 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231330505 CA368647904 |
115 | A>S | No |
ClinGen gnomAD |
|
|
rs773518847 CA4406700 |
115 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs965828709 CA163369777 |
116 | G>E | No |
ClinGen TOPMed |
|
|
CA4406699 rs770154793 |
116 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4406697 rs202212832 |
117 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4406696 rs375132035 |
118 | T>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1461717001 CA368647880 |
118 | T>S | No |
ClinGen TOPMed |
|
|
CA368647871 rs1327907822 |
119 | V>L | No |
ClinGen TOPMed |
|
|
rs1173332299 CA368647844 |
122 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA368647839 rs1474492634 |
122 | E>V | No |
ClinGen gnomAD |
|
|
rs780362510 CA163369754 |
123 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs780362510 CA4406694 |
123 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs747518733 CA163369760 |
123 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747518733 CA4406695 |
123 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4406693 rs555655635 |
124 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA368647827 rs1425571710 |
124 | L>V | No |
ClinGen gnomAD |
|
|
rs750804809 CA4406692 |
125 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4406691 rs777346007 |
125 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4406689 rs746429184 |
126 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4406690 rs200194215 |
126 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA163369726 rs979673761 |
128 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4406685 rs766442181 |
129 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA4406686 rs572755206 |
129 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4406684 rs762778679 |
130 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372443350 CA4406683 |
131 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1390480121 CA368647767 |
131 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1390480121 CA368647765 |
131 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA368647761 rs1250652671 |
132 | G>R | No |
ClinGen TOPMed |
|
|
rs761997494 CA4406681 |
136 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4406680 rs776748256 |
136 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs775923236 CA368647686 |
140 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA4406676 rs775923236 |
140 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA368647671 rs1348511961 |
141 | R>H | No |
ClinGen gnomAD |
|
|
CA163369697 rs781560090 |
141 | R>S | No |
ClinGen TOPMed |
|
|
CA4406675 rs557780669 |
142 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779311549 CA4406673 |
143 | C>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 144 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368647639 rs1562873884 |
144 | S>W | No |
ClinGen Ensembl |
|
|
CA368647628 rs1439712240 |
145 | Q>P | No |
ClinGen gnomAD |
|
|
rs1457368624 CA368647607 |
147 | V>A | No |
ClinGen TOPMed |
|
|
CA368647609 rs1330843739 |
147 | V>I | No |
ClinGen gnomAD |
|
|
CA368647604 rs1407555880 |
148 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA368647596 rs1358126473 |
148 | K>N | No |
ClinGen Ensembl |
|
|
rs569010209 CA4406669 |
149 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 149 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4406668 rs754397489 |
150 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA368647576 rs1382263848 |
150 | Q>H | No |
ClinGen gnomAD |
|
|
rs550776605 CA4406667 |
150 | Q>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 151 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1487520089 CA368647537 |
154 | V>A | No |
ClinGen gnomAD |
|
|
CA4406665 rs758476098 |
154 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA4406666 rs758476098 |
154 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs750227849 CA4406664 |
156 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1264972036 CA368647511 |
157 | A>S | No |
ClinGen gnomAD |
|
|
rs1262458947 CA368647506 |
157 | A>V | No |
ClinGen gnomAD |
|
|
rs762062727 CA4406662 |
158 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334566074 CA368647502 |
158 | R>W | No |
ClinGen TOPMed |
|
|
rs1345343462 CA368647481 |
160 | T>I | No |
ClinGen gnomAD |
|
|
rs1218229583 CA368647488 |
160 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA4406661 rs776673558 |
161 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298067387 CA368647462 |
162 | D>E | No |
ClinGen gnomAD |
|
|
CA368647459 rs746531603 |
163 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs746531603 CA163369648 |
163 | D>Y | No |
ClinGen TOPMed |
|
|
rs1171901403 CA368647442 CA368647440 |
164 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4406659 rs373822203 |
164 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772557794 CA4406658 |
164 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772557794 CA4406657 |
164 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4406656 rs746425054 |
166 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA4406655 rs774671784 |
167 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA163369639 rs369513802 |
167 | P>S | No |
ClinGen Ensembl |
|
|
CA4406653 rs749686941 |
168 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4406654 rs771163513 |
168 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA4406652 rs780651588 |
169 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168006499 CA368647391 |
170 | L>Q | No |
ClinGen TOPMed |
|
|
rs1489242416 CA368647363 |
172 | K>N | No |
ClinGen gnomAD |
|
|
rs370796034 CA163369620 |
173 | Y>H | No |
ClinGen ESP TOPMed |
|
|
CA368647348 rs1416886618 |
174 | R>C | No |
ClinGen TOPMed |
|
|
rs1254747811 CA368647347 |
174 | R>H | No |
ClinGen gnomAD |
|
|
CA4406650 rs746511872 |
178 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779767462 CA4406649 |
179 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264084341 CA368647242 |
180 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA368647232 rs759555931 |
181 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA4406618 rs759555931 |
181 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1301625124 CA368647205 |
183 | L>F | No |
ClinGen gnomAD |
|
|
CA368647199 rs1387936195 |
184 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA368647183 rs751664579 |
185 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs751664579 CA4406617 |
185 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs942544822 CA163369119 |
185 | R>P | No |
ClinGen gnomAD |
|
|
rs1457506521 CA368647152 |
187 | N>D | No |
ClinGen TOPMed |
|
|
CA368647154 rs1457506521 |
187 | N>H | No |
ClinGen TOPMed |
|
|
rs917890345 CA163369115 |
188 | A>G | No |
ClinGen TOPMed |
|
|
rs1310189813 CA368647140 |
188 | A>T | No |
ClinGen gnomAD |
|
|
rs1292753301 CA368647120 |
190 | A>T | No |
ClinGen gnomAD |
|
|
rs1156288736 CA368647100 |
191 | L>P | No |
ClinGen gnomAD |
|
|
rs766793827 CA4406616 |
191 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868407988 CA163369109 |
193 | A>S | No |
ClinGen Ensembl |
|
|
CA163369105 rs987020746 |
194 | G>R | No |
ClinGen gnomAD |
|
|
rs987020746 CA368647075 |
194 | G>W | No |
ClinGen gnomAD |
|
|
CA4406615 rs763571946 |
195 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA163369091 rs955345879 |
195 | L>P | No |
ClinGen TOPMed |
|
|
CA368647055 rs1191019754 |
196 | G>D | No |
ClinGen gnomAD |
|
|
CA4406614 rs773425116 |
196 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA368647044 rs1562873438 |
197 | A>E | No |
ClinGen Ensembl |
|
|
CA368647032 rs1356524808 |
198 | R>P | No |
ClinGen TOPMed |
|
|
CA368647037 rs1489091557 |
198 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1286871088 CA368647008 |
200 | A>E | No |
ClinGen gnomAD |
|
|
CA368647005 rs1286871088 |
200 | A>V | No |
ClinGen gnomAD |
|
|
CA368647002 rs1310719300 |
201 | A>T | No |
ClinGen gnomAD |
|
|
rs977802076 CA163369085 |
201 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA368646972 rs879584444 |
203 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA368646968 rs1399359434 |
203 | R>Q | No |
ClinGen gnomAD |
|
|
rs1022058799 CA163369072 |
207 | T>I | No |
ClinGen gnomAD |
|
|
CA368646925 rs1584219457 |
207 | T>P | No |
ClinGen Ensembl |
|
|
CA4406609 rs745306009 |
210 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA368646884 rs1175782104 |
210 | P>S | No |
ClinGen gnomAD |
|
|
CA4406607 rs778549341 |
214 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368646817 rs770754694 |
216 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770754694 CA4406606 |
216 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4406605 rs749290510 |
217 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368646800 rs749290510 |
217 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313696395 CA368646769 |
220 | G>C | No |
ClinGen gnomAD |
|
|
rs752502819 CA4406602 |
221 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781324827 CA368646749 |
222 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781324827 CA368646750 |
222 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4406601 rs781324827 |
222 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393850407 CA368646735 |
223 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1400890621 CA368646716 |
224 | A>V | No |
ClinGen gnomAD |
|
|
CA368646713 rs1401888894 |
225 | R>G | No |
ClinGen TOPMed |
|
|
rs1467290271 CA368646708 |
225 | R>H | No |
ClinGen gnomAD |
|
|
rs751579356 CA4406599 |
226 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4406598 rs766528598 |
227 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370171748 CA4406597 |
230 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4406595 rs765866104 |
232 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368646634 rs1021796848 |
232 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA163369010 rs1021796848 |
232 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1584219349 CA368646622 |
233 | Q>* | No |
ClinGen Ensembl |
|
|
CA368646613 rs1255593367 |
234 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA368646606 rs1201199776 |
234 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA368646615 rs1255593367 |
234 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs762206776 CA4406594 |
235 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163369007 rs1035211527 |
235 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 235 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777136357 CA4406593 |
236 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4406592 rs377192349 |
237 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4406591 rs759287497 |
237 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4406588 rs748775852 |
239 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs267601204 CA163368964 |
240 | G>R | No |
ClinGen gnomAD |
|
|
rs267601204 CA368646544 |
240 | G>W | No |
ClinGen gnomAD |
|
|
CA368646524 rs1329726933 |
241 | T>S | No |
ClinGen gnomAD |
|
|
CA163368947 rs769728216 |
242 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4406586 rs769728216 |
242 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163368941 rs771705925 |
243 | I>M | No |
ClinGen TOPMed |
|
|
rs1446947809 CA368646502 |
243 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1307860484 CA368646510 |
243 | I>V | No |
ClinGen gnomAD |
|
|
CA4406585 rs747933304 |
244 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA4406584 rs781024841 |
245 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA368646441 rs1367942785 |
247 | Q>* | No |
ClinGen gnomAD |
|
|
CA4406582 rs551457672 |
250 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs551457672 CA163368930 |
250 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368646373 rs1387048863 |
253 | E>K | No |
ClinGen TOPMed |
|
|
CA4406580 rs758454710 |
254 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs34496028 CA4406577 |
257 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA163368924 rs898287785 |
257 | R>P | No |
ClinGen TOPMed |
|
|
CA4406578 rs34496028 |
257 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA163368899 rs1037529011 |
258 | L>P | No |
ClinGen TOPMed |
|
|
CA4406576 rs754238631 |
259 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA368646304 rs1265487544 |
259 | L>P | No |
ClinGen gnomAD |
|
|
rs760979596 CA4406574 |
260 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163368888 rs760979596 |
260 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050958630 CA163368883 |
261 | A>D | No |
ClinGen gnomAD |
|
|
CA368646275 rs1173329732 |
262 | K>R | No |
ClinGen gnomAD |
|
|
rs1463473773 CA368646262 |
263 | G>D | No |
ClinGen TOPMed |
|
|
rs1436781056 CA368646245 |
264 | L>Q | No |
ClinGen gnomAD |
|
|
CA368646252 rs1331349992 |
264 | L>V | No |
ClinGen gnomAD |
|
|
rs550665110 CA4406572 |
267 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs550665110 CA163368879 |
267 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368646157 rs1426565693 |
269 | D>H | No |
ClinGen gnomAD |
|
|
CA368646112 rs1253705388 |
271 | R>G | No |
ClinGen TOPMed |
|
|
CA4406569 rs769707992 |
272 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs529394330 CA368646092 |
272 | A>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA163368870 rs529394330 |
272 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1450964149 CA368646080 |
273 | R>G | No |
ClinGen gnomAD |
|
|
rs1562873227 CA368646059 |
274 | P>A | No |
ClinGen Ensembl |
|
|
CA368646049 rs1268047723 |
274 | P>L | No |
ClinGen gnomAD |
|
|
CA368646047 rs1234470087 |
275 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 275 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368646035 rs1224628943 |
275 | R>L | No |
ClinGen gnomAD |
|
|
CA163368842 rs978376868 |
276 | V>M | No |
ClinGen gnomAD |
|
|
CA368645999 rs1355458562 |
277 | L>F | No |
ClinGen gnomAD |
|
|
rs967946590 CA163368827 |
279 | L>P | No |
ClinGen Ensembl |
|
|
rs1324709816 CA368645940 |
280 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM4161667 CA368645933 rs1407332139 |
280 | C>S | thyroid [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA368645913 rs1161795214 |
281 | T>A | No |
ClinGen TOPMed |
|
|
rs768456612 CA4406563 |
281 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368645853 rs1410527406 |
284 | F>L | No |
ClinGen gnomAD |
|
|
CA4406561 rs780265632 |
285 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA368645831 rs1562873187 |
286 | I>L | No |
ClinGen Ensembl |
|
|
CA368645817 rs1256631359 |
286 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1477543063 CA368645806 |
287 | P>T | No |
ClinGen gnomAD |
|
|
CA4406559 rs201659057 |
289 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA368645757 rs1201432121 |
289 | G>R | No |
ClinGen gnomAD |
|
|
rs1584219026 CA368645723 |
290 | G>V | No |
ClinGen Ensembl |
|
|
rs778723713 CA4406558 |
291 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368645708 rs778723713 |
291 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754359293 CA4406556 |
292 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275995364 CA368645683 |
292 | G>V | No |
ClinGen gnomAD |
|
|
rs756447039 CA4406554 |
293 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs764722492 CA4406555 |
293 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA368645659 rs1284353931 |
294 | W>* | No |
ClinGen gnomAD |
|
|
CA368645647 rs1291501381 |
294 | W>C | No |
ClinGen TOPMed |
|
|
rs937986290 CA163368772 |
296 | Y>C | No |
ClinGen TOPMed |
|
|
CA368645605 rs1225868464 |
296 | Y>H | No |
ClinGen gnomAD |
|
|
rs753012590 CA368645578 |
298 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs753012590 CA4406553 |
298 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4406551 COSM3831461 rs762571452 |
300 | D>E | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA368645557 rs1410263733 |
300 | D>Y | No |
ClinGen TOPMed |
|
|
rs926897640 CA163368743 |
302 | F>V | No |
ClinGen TOPMed |
|
|
CA163368741 rs1003733858 |
303 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA368645527 rs1003733858 |
303 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs749914075 CA4406550 |
304 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA368645508 rs1323650181 |
304 | S>N | No |
ClinGen TOPMed |
|
|
rs371351222 CA4406549 |
305 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368645461 rs1584218933 |
306 | G>D | No |
ClinGen Ensembl |
|
|
CA368645451 rs1422899810 |
307 | A>P | No |
ClinGen gnomAD |
|
|
CA368645374 rs1476070521 |
310 | Q>H | No |
ClinGen gnomAD |
|
|
rs776502659 CA4406547 |
311 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368645354 rs1352228436 |
311 | S>R | No |
ClinGen gnomAD |
|
|
CA4406546 rs768491747 |
315 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs760447778 CA368645296 |
316 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA4406544 rs775212418 |
316 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs760447778 CA4406545 |
316 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA368645251 rs772322657 |
319 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416587871 CA368645243 |
319 | R>H | No |
ClinGen TOPMed |
|
|
CA4406543 rs772322657 |
319 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746139290 CA4406542 |
321 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 322 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771088891 CA4406540 |
323 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA368645141 rs1447530136 |
325 | V>A | No |
ClinGen gnomAD |
|
|
rs1282544886 CA368645145 |
325 | V>F | No |
ClinGen gnomAD |
|
|
CA368645151 rs1282544886 |
325 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 328 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368645102 rs1341365893 |
328 | N>T | No |
ClinGen gnomAD |
|
|
rs1399280161 CA368645061 |
330 | M>I | No |
ClinGen gnomAD |
|
|
CA4406539 rs749396806 |
330 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs778279872 CA4406538 |
330 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309402164 CA368645033 |
331 | C>* | No |
ClinGen TOPMed |
|
|
rs1281726522 CA368645007 |
332 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1281726522 CA368645009 |
332 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1226486881 CA368644962 |
334 | F>L | No |
ClinGen TOPMed |
|
|
CA4406537 rs756647344 |
335 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342876818 CA368644917 |
336 | E>* | No |
ClinGen TOPMed |
|
|
CA368644895 rs1410965689 |
336 | E>D | No |
ClinGen gnomAD |
|
|
CA4406535 rs781460191 |
337 | P>L | No |
ClinGen ExAC |
|
|
CA368644858 rs1180817482 |
338 | Q>H | No |
ClinGen gnomAD |
|
|
CA4406534 rs758017412 |
340 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs767720651 CA163368656 |
342 | Q>R | No |
ClinGen Ensembl |
|
|
rs1207577774 CA368644784 |
344 | A>S | No |
ClinGen TOPMed |
|
|
rs1039039144 CA368644754 |
345 | D>E | No |
ClinGen TOPMed |
|
|
CA368644760 rs1272739308 |
345 | D>G | No |
ClinGen TOPMed |
|
|
CA4406532 rs750036457 |
347 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs764891260 CA4406531 |
347 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1309823104 CA368644678 |
350 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM4153705 CA368644676 rs1309823104 |
350 | G>W | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA4406529 rs753349664 |
352 | G>R | No |
ClinGen ExAC |
|
|
rs775329336 CA4406526 |
354 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs775329336 CA4406525 |
354 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs764083992 CA4406527 |
354 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1472111222 CA368644543 |
358 | G>S | No |
ClinGen TOPMed |
|
|
CA163368599 rs890557561 |
359 | Y>* | No |
ClinGen gnomAD |
|
|
CA368644531 rs1181716223 |
359 | Y>D | No |
ClinGen TOPMed |
|
|
rs1412454836 CA368644518 |
360 | T>I | No |
ClinGen TOPMed |
|
|
rs540857589 CA4406522 |
361 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs771287019 CA4406521 |
362 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA368644473 rs1368282732 |
363 | Y>* | No |
ClinGen TOPMed |
|
|
rs201313983 CA4406520 |
366 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1348125127 CA368644455 |
366 | E>K | No |
ClinGen gnomAD |
|
|
CA368644432 rs1386567207 |
368 | D>N | No |
ClinGen gnomAD |
|
|
rs770313623 CA4406518 |
370 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA368644414 rs1360641353 |
370 | I>R | No |
ClinGen TOPMed |
No associated diseases with Q8N8M0
1 regional properties for Q8N8M0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | GNAT domain | 53 - 188 | IPR000182 |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| acetyltransferase activity | Catalysis of the transfer of an acetyl group to an acceptor molecule. |
| acyltransferase activity, transferring groups other than amino-acyl groups | Catalysis of the transfer of an acyl group, other than amino-acyl, from one compound (donor) to another (acceptor). |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKLEASCGTA | TSEVPKPEKK | TARDAEPSSE | TRPQEVEAEP | RSGSGPEAEA | EPLDFVVATE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| REFEEVLAIS | GGIYGGLDYL | PSRYHSWLRD | PDRTVVLAKR | NGGVIALESV | NVIDAGETVL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VEGLRVAPWE | RGKGVAGLLQ | RFCSQLVKRQ | HPGVKVARLT | RDDQLGPREL | KKYRLITKQG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ILLVRFNASA | LLAGLGARLA | ALRTSGTFSP | LPTEAVSEAG | GDVARLLLSP | SVQRDVLPGG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TIIQDWQPYR | PSESNLRLLA | AKGLEWRVDS | RARPRVLTLC | TRPFPIPHGG | DGTWRYLNID |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AFGSDGAQVQ | SQLLWHLQRQ | APRLVGLNVM | CQLFLEPQLW | SQLADFCQVG | LGLELVKGYT |
| EQYLLEADI |