Q7RTT5
Gene name |
SSX7 |
Protein name |
Protein SSX7 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:280658 |
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 Q7RTT5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q7RTT5-F1 | Predicted | AlphaFoldDB |
199 variants for Q7RTT5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs139777180 CA10418055 |
3 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413232516 rs372765662 |
4 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA413232502 rs146871555 |
5 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 5 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1468594005 CA413232492 |
6 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA10418052 rs368794828 |
6 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs782065618 CA10418050 |
12 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782065618 CA413232420 |
12 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413232409 rs1401394375 |
13 | A>S | No |
ClinGen TOPMed |
|
|
CA413232403 rs1160654815 |
13 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1363987698 CA413232371 |
16 | Q>P | No |
ClinGen TOPMed |
|
| TCGA novel | 19 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329893501 rs139441743 COSM110531 |
19 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs782375845 CA10418048 |
22 | Q>H | No |
ClinGen ExAC |
|
|
rs1381233783 CA413232190 |
24 | S>A | No |
ClinGen TOPMed |
|
|
rs782089050 CA10418027 |
24 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs782372168 CA10418025 |
25 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA10418024 rs367870526 |
25 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA413232166 rs1556767237 |
26 | D>N | No |
ClinGen gnomAD |
|
|
CA10418022 rs782418022 |
28 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA10418021 rs782546960 |
31 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782591301 CA10418020 |
32 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1556767233 CA413232047 |
34 | K>E | No |
ClinGen gnomAD |
|
|
TCGA novel rs1556767232 CA413232037 |
34 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
rs782463353 CA10418019 |
35 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1556767230 CA413232026 |
35 | K>R | No |
ClinGen gnomAD |
|
|
rs1282525584 CA413232014 |
36 | E>* | No |
ClinGen TOPMed |
|
|
CA10418018 rs782225165 |
36 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA10418017 rs782643319 |
37 | W>R | No |
ClinGen ExAC |
|
| TCGA novel | 38 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 41 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413231917 rs1556767224 |
42 | S>P | No |
ClinGen gnomAD |
|
|
CA10418012 rs3122210 VAR_053694 |
43 | L>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs3122210 CA10418013 |
43 | L>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA413231884 rs1348638129 |
44 | E>V | No |
ClinGen TOPMed |
|
|
rs782767187 CA10418010 |
45 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA413231847 rs782261388 |
46 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10418009 rs782261388 |
46 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781994529 CA10418008 |
47 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA10418007 rs781917481 |
47 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10418006 rs781917481 |
47 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10418005 rs781917481 |
47 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782325186 CA10418004 |
49 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1268778068 CA413231792 |
50 | Y>C | No |
ClinGen TOPMed |
|
|
rs1481015619 CA413231756 |
52 | K>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 52 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556767209 CA413231763 |
52 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 53 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556767205 CA413231725 |
54 | K>N | No |
ClinGen gnomAD |
|
|
rs781966232 CA10418002 |
56 | E>K | No |
ClinGen ExAC |
|
|
CA10418001 rs782395562 |
58 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs782692818 CA10417999 |
61 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs150643694 CA10418000 |
61 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1556767141 CA413231034 |
62 | G>D | No |
ClinGen gnomAD |
|
|
CA329893483 rs141868047 |
62 | G>S | No |
ClinGen ESP TOPMed |
|
|
CA10417973 rs782426817 |
64 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1601976918 CA413230999 |
64 | K>N | No |
ClinGen Ensembl |
|
|
rs1556767136 CA413231005 |
64 | K>R | No |
ClinGen gnomAD |
|
|
CA413230987 rs1601976909 |
65 | A>V | No |
ClinGen Ensembl |
|
|
CA10417972 rs781800914 |
66 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 67 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 67 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10417971 rs782598650 |
68 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413230931 rs1556767132 |
70 | F>S | No |
ClinGen gnomAD |
|
|
CA10417970 rs782410496 |
71 | M>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1479032244 CA413230921 |
71 | M>V | No |
ClinGen TOPMed |
|
|
rs781855328 CA10417969 |
72 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413230844 rs1601976850 |
76 | A>D | No |
ClinGen Ensembl |
|
|
rs1556767125 CA413230846 |
76 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 76 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1288212 rs782163035 CA10417967 |
77 | T>K | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs147448937 CA10417965 |
78 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781793568 CA10417966 |
78 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 78 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142984842 CA10417964 |
80 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA413230778 rs1556767119 |
81 | G>A | No |
ClinGen gnomAD |
|
|
rs1352184981 CA413230784 |
81 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA413230751 rs1439376469 |
83 | D>Y | No |
ClinGen TOPMed |
|
|
rs782771584 CA10417960 |
84 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413230715 rs1556767112 |
85 | D>G | No |
ClinGen gnomAD |
|
|
CA413230684 rs1241818200 |
87 | D>Y | No |
ClinGen TOPMed |
|
|
rs1556767107 CA413230667 |
88 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10417959 rs782009954 |
88 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413230662 rs782009954 |
88 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10417958 rs782009954 |
88 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10417957 rs782409737 |
89 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs781930259 CA10417956 |
90 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs781930259 CA10417955 |
90 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs782631834 CA10417952 CA10417953 |
90 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10417954 rs782338818 |
90 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782297641 CA413230625 |
91 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA10417950 rs782297641 COSM3800660 |
91 | G>E | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs782520779 CA10417951 |
91 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs782571322 CA10417949 |
92 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs782535632 CA10417928 |
94 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413230417 rs1556766873 |
96 | R>C | No |
ClinGen gnomAD |
|
|
CA10417926 rs782562552 |
96 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782562552 CA10417927 |
96 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10417925 rs782446928 |
98 | Q>R | No |
ClinGen ExAC |
|
|
CA413230334 rs148578012 |
102 | C>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10417924 rs148578012 |
102 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782735386 CA10417923 |
102 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA413230320 rs1556766865 |
103 | R>G | No |
ClinGen gnomAD |
|
|
CA413230318 rs1214335894 |
103 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA10417922 rs782111091 |
105 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1556766864 CA413230280 |
106 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 106 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10417921 rs377004276 |
107 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782729136 CA10417920 |
108 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782053656 CA413230227 |
109 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10417919 rs782053656 |
109 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375137766 CA329893289 |
112 | M>I | No |
ClinGen ESP TOPMed |
|
|
rs1556766612 CA413229479 |
112 | M>T | No |
ClinGen gnomAD |
|
|
CA10417898 rs181832602 |
113 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs181832602 CA10417897 |
113 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1392453502 CA413229447 |
114 | K>N | No |
ClinGen TOPMed |
|
|
CA413229422 rs1453087970 |
116 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1556766604 CA413229408 |
117 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 118 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 119 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413229368 rs1556766602 |
119 | E>D | No |
ClinGen gnomAD |
|
|
CA413229356 rs1176040205 |
120 | G>E | No |
ClinGen TOPMed |
|
|
CA413229340 rs1556766599 |
121 | N>S | No |
ClinGen gnomAD |
|
|
CA413229328 rs1601974645 |
122 | D>Y | No |
ClinGen Ensembl |
|
|
CA329893288 rs782803891 |
123 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10417895 rs782803891 |
123 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA413229283 rs782337395 |
125 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782337395 CA10417893 |
125 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435387156 CA413229278 |
125 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA413229272 rs1556766595 |
126 | V>L | No |
ClinGen gnomAD |
|
|
CA413229253 COSM1294586 rs1299492721 |
127 | P>S | cervix [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs370009445 CA10417891 |
129 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1294585 rs782388208 CA10417890 |
132 | S>P | cervix [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA413229143 COSM457709 rs1556766591 |
135 | D>N | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA413229102 rs1212260452 |
137 | K>N | No |
ClinGen TOPMed |
|
|
CA10417887 rs782673840 COSM1294584 |
138 | H>Q | cervix [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs201165960 CA10417886 |
139 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA10417885 rs782209793 |
139 | L>P | No |
ClinGen ExAC TOPMed |
|
|
rs782620811 CA10417884 |
140 | C>R | No |
ClinGen ExAC |
|
|
rs782508818 CA10417882 |
141 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA413229057 rs1556766586 |
141 | P>S | No |
ClinGen gnomAD |
|
|
rs375904446 CA329893287 |
142 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs1209643049 CA413229030 |
143 | G>* | No |
ClinGen TOPMed |
|
|
rs1250266831 CA413229009 |
144 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs782561132 CA10417879 |
145 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs138008347 CA413229000 |
145 | P>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10417878 rs138008347 |
145 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10417877 rs782700207 |
146 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1556766578 CA413228974 |
147 | T>A | No |
ClinGen gnomAD |
|
|
rs1556766575 CA413228950 |
150 | K>N | No |
ClinGen gnomAD |
|
|
CA10417874 rs781962389 |
150 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781962389 CA413228951 |
150 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413228945 rs1435435053 |
151 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs782767975 CA10417873 |
151 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10417872 rs150328554 |
152 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782020031 CA10417871 |
154 | T>I | No |
ClinGen ExAC gnomAD |
|
| rs782421121 | 155 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10417845 rs782307644 |
156 | G>E | No |
ClinGen ExAC |
|
|
CA10417869 CA329893286 rs145931176 |
156 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10417842 rs782360291 |
158 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs782606998 CA10417843 |
158 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA413228885 rs782643776 CA10417840 |
159 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782247750 CA10417841 |
159 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs782548544 CA10417839 |
161 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10417838 rs781908214 |
161 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413228867 rs1556766246 |
162 | H>R | No |
ClinGen gnomAD |
|
|
rs782569072 CA10417837 |
163 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000901297 CA10417836 rs200360993 |
165 | T>I | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs140270142 CA10417835 |
166 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA329893168 rs782780877 |
167 | R>G | No |
ClinGen 1000Genomes |
|
|
CA413228836 rs1286977810 |
167 | R>T | No |
ClinGen TOPMed |
|
|
CA413228831 rs1556766242 |
168 | L>V | No |
ClinGen gnomAD |
|
|
COSM1122861 CA413228827 rs782123925 |
169 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM211514 rs1381667343 CA413228823 |
169 | R>H | Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA10417833 rs782123925 |
169 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413228814 rs1556766239 |
171 | R>G | No |
ClinGen gnomAD |
|
|
CA413228801 rs1342577940 |
172 | K>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 173 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10417831 rs782797072 |
175 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs782044922 CA10417830 |
176 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781929697 CA413228770 |
177 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs781929697 CA10417829 |
177 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA413228765 rs1556766232 |
178 | E>K | No |
ClinGen gnomAD |
|
|
CA413228747 rs1324807899 |
180 | I>T | No |
ClinGen TOPMed |
|
|
rs1212693073 CA413228743 |
181 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10417827 rs782107980 |
181 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs146690510 CA329893167 |
181 | S>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1212693073 CA413228744 |
181 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10417825 rs112382781 |
182 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs5986182 CA10417826 |
182 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782277755 CA10417824 |
183 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1198323757 CA413228714 |
185 | E>D | No |
ClinGen TOPMed |
|
|
CA10417822 RCV000961798 rs146891115 |
185 | E>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA413228718 rs146891115 |
185 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782199762 CA413228703 |
186 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202133163 CA10417819 |
187 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 187 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782618194 CA10417820 |
187 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA10417818 rs781872619 |
188 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q7RTT5
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNGDDAFARR | PRAGAQIPEK | IQKSFDDIAK | YFSKKEWEKM | KSLEKISYVY | MKRKYEAMTK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LGFKATLPPF | MHNTGATDLQ | GNDFDNDRNQ | GNQVERPQMT | FCRLQRIFPK | IMPKKPAEEG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NDSKGVPEAS | GSQNDGKHLC | PPGKPSTSEK | INKTSGPKRG | KHAWTHRLRE | RKQLVIYEEI |
| SDPEEDDE |