A1A4G5
Gene name |
LNP1 (NP3) |
Protein name |
Leukemia NUP98 fusion partner 1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:348801 |
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 A1A4G5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A1A4G5-F1 | Predicted | AlphaFoldDB |
156 variants for A1A4G5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs368596398 CA2515793 |
2 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353833663 rs1412780767 |
3 | H>R | No |
ClinGen gnomAD |
|
|
CA2515794 rs761766367 |
4 | K>R | No |
ClinGen ExAC TOPMed |
|
|
rs771575307 CA2515798 |
6 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403749276 CA353833694 |
7 | D>E | No |
ClinGen Ensembl |
|
|
rs953695037 CA79666240 |
7 | D>N | No |
ClinGen TOPMed |
|
|
CA353833692 rs1388499822 |
7 | D>V | No |
ClinGen gnomAD |
|
|
rs1437840009 CA353833697 |
8 | D>Y | No |
ClinGen gnomAD |
|
|
CA2515799 rs750277314 |
9 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1362056511 CA353833714 |
10 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 11 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353833729 rs1385859905 |
12 | S>F | No |
ClinGen gnomAD |
|
|
CA353833739 rs1188581282 |
14 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1188581282 CA353833738 |
14 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1465087871 CA353833745 |
15 | K>* | No |
ClinGen TOPMed |
|
|
rs1465087871 CA353833746 |
15 | K>E | No |
ClinGen TOPMed |
|
|
CA353833778 rs1391545328 |
19 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1422665906 CA353833782 |
19 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2515800 rs550804248 |
20 | F>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353833786 rs550804248 |
20 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766086917 CA2515801 |
25 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA79666269 rs912072229 |
25 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
rs912072229 CA353833824 |
25 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1225995481 CA353833839 |
27 | E>Q | No |
ClinGen gnomAD |
|
|
CA2515802 rs753420789 |
28 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA79666273 rs971828053 |
29 | D>E | No |
ClinGen TOPMed |
|
|
rs754498900 CA2515803 |
30 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 30 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1244761789 CA353833862 |
30 | Q>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 32 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353833882 rs1488069376 |
33 | L>F | No |
ClinGen gnomAD |
|
|
rs778347870 CA2515804 |
33 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs778123972 CA2515807 |
34 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758984362 CA2515806 |
34 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs199983086 COSM340655 CA2515808 |
36 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs199983086 CA353833897 |
36 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs894128219 CA79666328 |
36 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2515809 rs201658663 |
37 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2515810 rs781571184 |
38 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2515812 rs750149977 |
38 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750149977 COSM1035611 CA2515811 |
38 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1309048754 CA353833911 |
39 | L>P | No |
ClinGen gnomAD |
|
|
CA353833909 rs1298400610 |
39 | L>V | No |
ClinGen gnomAD |
|
|
rs947867607 CA79666358 |
41 | A>V | No |
ClinGen TOPMed |
|
|
rs1351896598 CA353833931 |
42 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA79666386 rs758150072 |
42 | T>S | No |
ClinGen Ensembl |
|
|
rs558095239 CA2515813 |
43 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA2515814 rs762915340 |
44 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA2515815 rs772104310 |
45 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1576231401 TCGA novel CA353833960 |
47 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2515816 rs773017851 |
49 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1287704888 CA353833983 |
51 | C>R | No |
ClinGen gnomAD |
|
| TCGA novel | 51 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1375094744 CA353833992 |
52 | P>S | No |
ClinGen TOPMed |
|
|
CA79647530 rs952236701 |
56 | L>F | No |
ClinGen Ensembl |
|
|
rs1322519858 CA353820640 |
57 | P>R | No |
ClinGen gnomAD |
|
|
CA79647538 rs868776329 |
59 | I>M | No |
ClinGen Ensembl |
|
|
CA79647548 rs774796754 |
60 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 63 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA79647575 rs75122231 |
64 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs386663873 CA79647558 |
64 | C>RL | No |
ClinGen Ensembl |
|
|
CA2515842 rs75122231 |
64 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs78633312 CA353820725 |
64 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1345899743 CA353820717 |
64 | C>Y | No |
ClinGen gnomAD |
|
|
CA79647591 rs76354691 |
65 | H>L | No |
ClinGen 1000Genomes TOPMed |
|
|
CA353820742 rs1209234655 |
66 | P>S | No |
ClinGen TOPMed |
|
|
CA353820759 rs1354311517 |
67 | R>T | No |
ClinGen TOPMed |
|
|
rs775004254 CA2515843 |
68 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs923338221 CA79647605 |
72 | E>K | No |
ClinGen Ensembl |
|
|
CA353820844 rs1250494742 |
73 | D>V | No |
ClinGen gnomAD |
|
|
rs1156601000 CA353820849 |
74 | Q>E | No |
ClinGen gnomAD |
|
|
rs374548753 CA2515850 COSM1035614 |
77 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2515851 rs200658139 |
77 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM445201 CA2515857 rs372359372 |
79 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed |
|
CA79647688 rs377157908 |
79 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2515868 rs755106558 |
80 | S>I | No |
ClinGen ExAC |
|
|
rs749410910 CA2515866 |
80 | S>R | No |
ClinGen ExAC |
|
|
rs778820718 CA2515870 |
80 | S>R | No |
ClinGen ExAC |
|
|
rs1429934306 CA353820895 |
81 | H>R | No |
ClinGen TOPMed |
|
|
CA79647740 rs750490843 |
81 | H>SDRL | No |
ClinGen Ensembl |
|
|
rs770905356 CA2515871 |
81 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs769516760 CA2515874 |
82 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2515873 rs537283276 |
82 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2515876 rs762467589 |
83 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199784018 CA2515875 |
83 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773780602 CA2515878 |
84 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs768319953 CA2515877 |
84 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs761389221 CA2515879 |
86 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353820965 rs1327615182 |
87 | K>N | No |
ClinGen gnomAD |
|
|
CA353820970 rs1576238154 |
88 | Y>S | No |
ClinGen Ensembl |
|
|
CA353820993 rs1196470513 |
91 | D>G | No |
ClinGen TOPMed |
|
|
CA353820999 rs1453750573 |
92 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1267677566 COSM336705 CA353821011 |
94 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs750892187 CA2515881 |
97 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA353821142 rs1576238170 |
102 | G>E | No |
ClinGen Ensembl |
|
|
rs186853391 CA2515883 |
103 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2515884 rs754119227 |
104 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353821244 rs1392580893 |
106 | S>Y | No |
ClinGen gnomAD |
|
|
rs755197709 CA2515885 |
108 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 109 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375899921 CA2515889 |
112 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2515888 rs758471943 |
112 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA353821503 rs1576238186 |
114 | S>C | No |
ClinGen Ensembl |
|
|
rs577456740 CA2515890 |
116 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767811020 CA2515891 |
117 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353821590 rs767811020 COSM1035617 |
117 | R>Q | Variant assessed as Somatic; 4.644e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA79647940 rs1026449615 |
117 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs952181433 CA79647953 |
118 | Q>E | No |
ClinGen Ensembl |
|
|
rs779750466 CA2515892 |
119 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2515893 rs749084734 |
120 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1483146931 CA353821778 |
122 | R>S | No |
ClinGen gnomAD |
|
|
rs1300706477 CA353821800 |
123 | T>I | No |
ClinGen Ensembl |
|
|
rs1183973559 CA353821837 |
125 | R>C | No |
ClinGen gnomAD |
|
|
rs541399644 CA2515894 COSM1035618 |
125 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA2515895 rs541399644 |
125 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353821846 rs541399644 |
125 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs761412044 CA2515896 |
129 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA353822980 rs1333521605 |
130 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs747753975 CA2515915 |
130 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1451093422 CA353822983 |
131 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs188444196 CA2515917 |
134 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1231008127 CA353823038 |
138 | N>I | No |
ClinGen gnomAD |
|
|
rs777192133 CA2515920 |
139 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775714742 CA2515923 |
143 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1202919717 CA353823117 |
145 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs764276017 CA2515925 |
147 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA353823192 rs1186370719 |
150 | R>* | No |
ClinGen gnomAD |
|
|
CA353823190 rs1186370719 |
150 | R>G | No |
ClinGen gnomAD |
|
|
rs193190932 CA2515928 |
150 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1035621 CA2515927 rs193190932 |
150 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs370799302 CA2515929 |
151 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2515930 rs753750937 |
152 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2515931 rs548311816 |
153 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353823262 rs548311816 |
153 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224390936 CA353823234 |
153 | V>I | No |
ClinGen TOPMed |
|
|
rs1483359301 CA353823298 |
154 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2515932 rs184735880 |
154 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747919538 CA2515933 |
156 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559848155 CA353823387 |
157 | R>K | No |
ClinGen Ensembl |
|
|
CA353823400 rs1389966887 |
158 | S>G | No |
ClinGen gnomAD |
|
|
CA353823408 rs1437907314 |
158 | S>N | No |
ClinGen gnomAD |
|
|
CA353823419 rs1183994953 |
158 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs758175216 CA2515934 |
159 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2515935 rs777555762 |
160 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA353823609 rs1132022 CA353823612 |
163 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353823563 rs1576239375 |
163 | E>K | No |
ClinGen Ensembl |
|
|
rs777021518 CA2515938 |
169 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs1320764891 CA353823809 |
169 | M>V | No |
ClinGen gnomAD |
|
|
CA353823869 rs1178083402 |
170 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 170 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775876348 CA2515941 |
171 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs367890829 CA2515940 |
171 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2515944 rs376972874 |
174 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353824006 rs376972874 |
174 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 176 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2515945 rs761809427 |
178 | E>G | No |
ClinGen ExAC gnomAD |
1 associated diseases with A1A4G5
Without disease ID
No regional properties for A1A4G5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for A1A4G5 | |||
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
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 |
| MEHKDDDDDD | VSFAKWMSSF | WGHSWREEDQ | RGLRERHRLQ | ATSHRKTSLP | CPLPVLPRIP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SSDCHPRRHS | HEDQEFRCRS | HVRDYRKYSE | DGSFKEPLES | KGRSHSKIEK | FSESFERQLC |
| 130 | 140 | 150 | 160 | 170 | |
| FRTKRSASLG | PESRKERNER | ECLRMEIKSR | KKVEEERSSR | KEEHGEAHMA | PLFEKGPE |