Q8TBB0
Gene name |
THAP6 |
Protein name |
THAP domain-containing protein 6 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:152815 |
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 Q8TBB0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8TBB0-F1 | Predicted | AlphaFoldDB |
182 variants for Q8TBB0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1365106903 CA357275833 |
2 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 4 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 5 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140233330 CA99780099 |
5 | C>W | No |
ClinGen ESP |
|
|
CA99780098 rs537952691 |
5 | C>Y | No |
ClinGen Ensembl |
|
|
CA2964630 rs746616242 |
7 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756898771 CA2964631 |
8 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA357275878 rs1402428907 |
9 | G>R | No |
ClinGen gnomAD |
|
|
rs780729665 CA2964632 |
10 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA2964633 rs745427006 |
10 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2964634 rs542042267 |
12 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1240791873 CA357275903 |
13 | R>C | No |
ClinGen gnomAD |
|
|
CA2964635 rs779910070 |
13 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1057545 CA357275939 rs1406454375 |
18 | S>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 19 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 20 | L>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1256624696 CA357275967 |
22 | G>E | No |
ClinGen gnomAD |
|
|
rs1463624026 CA357275976 |
24 | T>A | No |
ClinGen TOPMed |
|
|
CA357275980 rs1201947856 |
24 | T>I | No |
ClinGen gnomAD |
|
|
CA357275998 rs771120306 |
27 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771120306 CA2964640 |
27 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2964659 rs759822540 |
29 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs769951434 CA2964661 |
36 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs775749395 CA2964662 |
36 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA2964664 rs764754857 |
38 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs912021529 CA357276265 |
38 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
CA99781165 rs912021529 |
38 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1403160975 CA357276280 |
39 | V>I | No |
ClinGen gnomAD |
|
|
rs751948588 CA2964665 COSM1540833 |
41 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA357276307 rs1560540109 |
41 | A>V | No |
ClinGen Ensembl |
|
|
rs1019822489 CA99781205 |
42 | M>K | No |
ClinGen Ensembl |
|
|
rs1216494773 CA357276331 |
43 | K>R | No |
ClinGen gnomAD |
|
|
rs750004487 CA2964668 |
46 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 46 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1294570286 CA357276387 |
48 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs201627689 CA2964671 |
48 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754908166 CA2964672 |
49 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs34942800 CA2964676 |
51 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs34942800 CA2964675 |
51 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1187843603 CA357276437 |
52 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 52 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357276461 rs1251193081 |
54 | E>A | No |
ClinGen gnomAD |
|
|
rs969129902 CA99781288 |
55 | P>H | No |
ClinGen Ensembl |
|
|
rs1165461746 CA357276509 |
58 | G>R | No |
ClinGen gnomAD |
|
|
rs746043221 CA2964679 |
59 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2964680 rs770187364 |
60 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370307359 CA2964682 |
63 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA357276578 rs1451922703 |
64 | R>K | No |
ClinGen TOPMed |
|
|
CA99781321 rs201504507 |
66 | F>C | No |
ClinGen 1000Genomes |
|
|
rs762413697 CA2964685 |
67 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs762413697 CA357276613 |
67 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA99781330 rs747187698 |
67 | K>R | No |
ClinGen Ensembl |
|
|
CA2964686 rs374054120 |
68 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2964687 rs773676952 |
69 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA357276659 rs1357958736 |
70 | D>G | No |
ClinGen gnomAD |
|
|
rs1290405882 CA357276695 |
72 | D>G | No |
ClinGen gnomAD |
|
|
rs1437544078 CA357276690 |
72 | D>Y | No |
ClinGen Ensembl |
|
|
rs1217577854 CA357276716 |
73 | R>S | No |
ClinGen gnomAD |
|
|
rs1239984611 CA357276727 |
74 | S>N | No |
ClinGen gnomAD |
|
|
rs1485446441 CA357276735 |
75 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA357276777 rs1182262976 |
78 | I>T | No |
ClinGen gnomAD |
|
|
CA357276838 rs1427880930 |
83 | G>V | No |
ClinGen TOPMed |
|
|
rs1162774948 CA357276853 |
84 | V>G | No |
ClinGen gnomAD |
|
|
CA99781367 rs1032001251 |
85 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA99781369 rs550412417 |
86 | P>L | No |
ClinGen Ensembl |
|
|
rs1185337681 CA357276880 |
87 | S>A | No |
ClinGen gnomAD |
|
|
CA2964692 rs184735609 |
88 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357276900 rs1428532164 |
89 | F>L | No |
ClinGen gnomAD |
|
|
rs143920365 CA357276927 |
90 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1485344051 CA357276936 |
91 | S>C | No |
ClinGen TOPMed |
|
|
CA2964695 rs146466349 |
92 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA99781426 rs992609176 |
93 | Y>S | No |
ClinGen Ensembl |
|
|
CA2964696 rs764821469 |
94 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758253328 CA2964733 |
97 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA357277097 rs1171854016 |
100 | E>K | No |
ClinGen gnomAD |
|
|
rs374122301 CA99785158 |
101 | K>E | No |
ClinGen ESP TOPMed |
|
|
CA99785165 rs912843175 |
103 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA357277120 rs1399009448 |
103 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA357277121 rs1399009448 |
103 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs764156773 CA2964735 |
104 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA2964736 rs751546496 |
105 | R>K | No |
ClinGen ExAC |
|
|
CA2964737 rs757059452 |
107 | N>T | No |
ClinGen ExAC |
|
| rs1334718216 | 107 | N>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1405006310 CA357277154 |
108 | F>L | No |
ClinGen gnomAD |
|
|
rs754083087 CA2964739 |
109 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs778847279 CA2964741 |
110 | L>H | No |
ClinGen ExAC |
|
|
CA2964742 rs748329307 |
111 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208295962 CA357277176 |
111 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs772052431 CA2964743 |
111 | K>R | No |
ClinGen ExAC |
|
|
rs1272180011 CA357277181 |
112 | T>I | No |
ClinGen gnomAD |
|
|
CA2964744 rs778198702 |
112 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA2964747 rs771250612 |
113 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771250612 CA2964746 |
113 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA99785270 rs940257830 |
116 | T>A | No |
ClinGen TOPMed |
|
|
CA357277202 rs774856709 COSM1540832 |
116 | T>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs774856709 CA2964750 |
116 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2964751 rs139083562 |
118 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA99785283 rs1037011784 |
118 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs536379368 CA2964752 |
119 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2964753 rs751493402 |
121 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA357277240 rs761881856 |
122 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2964754 rs761881856 |
122 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295832732 CA357277280 |
128 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA357277276 rs755148803 |
128 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755148803 CA2964757 |
128 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295832732 CA357277278 |
128 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs149347484 CA2964758 |
129 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2964759 rs752873556 |
130 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777858301 CA2964762 |
133 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2964763 rs76333976 |
135 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368339156 CA2964764 |
138 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357277347 rs1368752856 |
138 | F>V | No |
ClinGen TOPMed |
|
|
CA2964788 rs144642753 |
140 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144642753 CA357276022 |
140 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2964789 rs201273807 |
141 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773149389 CA2964790 |
141 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2964792 rs148475724 |
145 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1252127416 CA357276070 |
147 | S>C | No |
ClinGen gnomAD |
|
|
rs763227582 CA2964794 |
148 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2964793 rs776343494 |
148 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357276083 rs1319822320 |
149 | K>E | No |
ClinGen TOPMed |
|
|
rs1429513255 CA357276103 |
151 | L>P | No |
ClinGen gnomAD |
|
|
CA357276117 rs1393850287 |
153 | H>R | No |
ClinGen TOPMed |
|
|
CA357276126 rs1560546272 |
154 | K>E | No |
ClinGen Ensembl |
|
|
CA2964795 rs764370104 |
154 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358301665 CA357276185 |
158 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 160 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2964797 rs141771853 |
160 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199945417 CA2964800 |
161 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372598193 CA2964799 |
161 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780452111 CA357276283 |
165 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2964802 rs749682280 |
165 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs780452111 CA2964801 |
165 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA357276317 rs1301028290 |
167 | E>A | No |
ClinGen gnomAD |
|
|
rs773735442 CA2964805 |
170 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773735442 CA99748828 |
170 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375955767 CA2964804 |
170 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357276371 rs1479393466 |
171 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA357276372 rs1479393466 |
171 | N>T | No |
ClinGen gnomAD |
|
|
rs961779808 CA99748833 |
173 | L>S | No |
ClinGen TOPMed |
|
|
rs369772476 CA2964806 |
175 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA357276421 rs1268913945 |
175 | R>Q | No |
ClinGen gnomAD |
|
|
rs1252258694 CA357276438 |
176 | E>G | No |
ClinGen gnomAD |
|
|
CA2964808 rs527900695 |
178 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs770836249 CA2964809 |
178 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2964810 rs776485319 |
180 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA357276530 rs867021462 |
182 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA99748862 rs867021462 |
182 | S>L | No |
ClinGen TOPMed |
|
|
rs759261973 CA2964811 |
182 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs150566447 CA2964812 |
183 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1303853321 CA357276581 |
185 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA99748872 rs969100352 |
186 | T>A | No |
ClinGen TOPMed |
|
|
CA2964814 rs762054035 |
186 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1312980838 CA357276596 |
187 | I>V | No |
ClinGen TOPMed |
|
|
rs1403413814 CA357276609 |
188 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs767553849 CA2964815 |
189 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 190 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363147609 CA357276636 |
190 | L>V | No |
ClinGen gnomAD |
|
|
CA2964816 rs750526561 |
192 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA2964817 rs761238889 |
194 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357276725 rs1490695850 |
196 | I>M | No |
ClinGen gnomAD |
|
|
CA99748882 rs928080935 |
196 | I>V | No |
ClinGen TOPMed |
|
|
rs546553324 CA99748883 |
199 | E>A | No |
ClinGen 1000Genomes |
|
|
CA2964819 rs148026447 |
201 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs140891870 CA2964820 |
202 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357276813 rs1180329123 |
202 | N>T | No |
ClinGen Ensembl |
|
|
CA2964821 rs779448314 |
203 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2964822 rs752362349 |
206 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2964823 rs180792819 |
207 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1250325732 CA357276920 |
210 | D>N | No |
ClinGen TOPMed |
|
|
CA357276944 rs777327335 |
211 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2964824 rs777327335 |
211 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2964826 rs770481500 |
212 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1208385138 CA357276976 |
213 | Q>R | No |
ClinGen TOPMed |
|
|
CA99748906 rs766724371 |
214 | E>* | No |
ClinGen Ensembl |
|
|
CA2964827 rs780935900 |
215 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA357277015 rs1433094699 |
216 | I>T | No |
ClinGen gnomAD |
|
|
CA2964828 rs745830472 |
217 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs946767051 CA99748925 |
218 | Q>R | No |
ClinGen TOPMed |
|
|
rs1560546655 CA357277040 |
219 | D>E | No |
ClinGen Ensembl |
|
|
rs1419972445 CA357277033 |
219 | D>N | No |
ClinGen gnomAD |
|
|
CA2964829 rs369485771 |
220 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q8TBB0
1 regional properties for Q8TBB0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | THAP-type zinc finger | 1 - 95 | IPR006612 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| microtubule cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| metal ion binding | Binding to a metal ion. |
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 |
| MVKCCSAIGC | ASRCLPNSKL | KGLTFHVFPT | DENIKRKWVL | AMKRLDVNAA | GIWEPKKGDV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LCSRHFKKTD | FDRSAPNIKL | KPGVIPSIFD | SPYHLQGKRE | KLHCRKNFTL | KTVPATNYNH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HLVGASSCIE | EFQSQFIFEH | SYSVMDSPKK | LKHKLDHVIG | ELEDTKESLR | NVLDREKRFQ |
| 190 | 200 | 210 | 220 | ||
| KSLRKTIREL | KDECLISQET | ANRLDTFCWD | CCQESIEQDY | IS |