Q96C74
Gene name |
ROPN1L (ASP, RSPH11) |
Protein name |
Ropporin-1-like protein |
Names |
ROPN1-like protein, AKAP-associated sperm protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:83853 |
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
2 structures for Q96C74
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8J07 | EM | 410 A | Q/R/q/r | 1-230 | PDB |
| AF-Q96C74-F1 | Predicted | AlphaFoldDB |
209 variants for Q96C74
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359186952 rs1359636885 |
2 | P>Q | No |
ClinGen gnomAD |
|
|
CA359186957 rs1252770395 |
3 | L>F | No |
ClinGen gnomAD |
|
|
CA359186973 rs1395963660 |
5 | D>E | No |
ClinGen gnomAD |
|
|
rs1195710577 CA359186968 |
5 | D>N | No |
ClinGen gnomAD |
|
|
CA359186979 rs1427992436 |
6 | T>S | No |
ClinGen gnomAD |
|
|
rs1168500113 CA359187001 |
9 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 11 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3199592 rs761766011 |
11 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs768427973 CA3199591 |
11 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768427973 CA3199590 |
11 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163898801 CA359187020 |
12 | Q>P | No |
ClinGen gnomAD |
|
|
CA359187030 rs1291889383 |
13 | I>M | No |
ClinGen TOPMed |
|
|
rs772892187 CA3199594 |
13 | I>N | No |
ClinGen ExAC |
|
|
rs1392042947 CA359187047 |
16 | P>A | No |
ClinGen gnomAD |
|
|
rs762533473 CA3199595 |
16 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA359187050 rs762533473 |
16 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs766194872 CA3199596 |
17 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA113906761 rs745877124 |
17 | P>S | No |
ClinGen Ensembl |
|
|
rs1049987928 CA113906772 |
18 | E>G | No |
ClinGen TOPMed |
|
|
rs145970601 CA3199597 |
18 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3199598 rs756441351 |
20 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA359187078 rs764462958 |
21 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1451360307 CA359187087 |
23 | L>V | No |
ClinGen gnomAD |
|
|
CA3199602 rs575064353 |
29 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3199601 rs555236708 |
29 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1427981422 CA359187143 |
31 | I>T | No |
ClinGen TOPMed |
|
|
rs1159372152 CA359187148 |
32 | R>C | No |
ClinGen TOPMed |
|
|
rs746003458 CA3199603 |
34 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1333113118 CA359187165 |
35 | P>T | No |
ClinGen gnomAD |
|
|
CA3199604 rs368788751 |
36 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 38 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1205718057 CA359187198 |
40 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1205718057 CA359187197 |
40 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs780256171 CA3199605 |
40 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3199606 rs371287142 |
41 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1029984514 CA113906779 |
41 | W>R | No |
ClinGen Ensembl |
|
|
CA3199607 rs768353174 |
42 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA3199609 rs367925100 |
43 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3199611 rs747868004 |
44 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA3199642 rs41280363 |
45 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3199641 rs763405654 |
45 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs1268856674 CA359187252 |
47 | S>* | No |
ClinGen Ensembl |
|
| TCGA novel | 47 | S>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359187258 rs1285105848 COSM180640 |
48 | A>D | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1417199572 CA359187256 |
48 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA359187269 rs1309412539 |
50 | S>* | No |
ClinGen gnomAD |
|
|
CA359187271 rs1309412539 |
50 | S>L | No |
ClinGen gnomAD |
|
|
CA3199648 rs375461849 |
52 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375461849 CA3199649 |
52 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359187290 rs1486589153 |
53 | D>E | No |
ClinGen gnomAD |
|
|
rs34537313 CA3199651 |
55 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA113908649 rs959484664 |
55 | L>P | No |
ClinGen Ensembl |
|
|
CA359187303 rs1479532813 |
56 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1479532813 CA359187301 |
56 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1220600626 CA359187319 |
58 | K>N | No |
ClinGen TOPMed |
|
|
CA3199653 rs771414987 |
58 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs775218473 CA3199654 |
59 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA113908662 rs992646424 |
59 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 59 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs917789209 CA113908669 |
60 | R>K | No |
ClinGen Ensembl |
|
|
CA3199655 rs746611148 |
62 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354543661 CA359187353 |
63 | M>I | No |
ClinGen gnomAD |
|
|
rs770171478 CA359187349 |
63 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs770171478 CA3199656 |
63 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs773610285 CA3199657 |
64 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773610285 CA113908674 |
64 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3199659 rs763285700 |
65 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561168812 CA359187365 |
66 | A>T | No |
ClinGen Ensembl |
|
|
CA3199661 rs754049057 |
67 | T>P | No |
ClinGen ExAC |
|
|
CA3199662 rs754049057 |
67 | T>S | No |
ClinGen ExAC |
|
|
CA3199663 rs767438939 |
68 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs767438939 CA3199664 |
68 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA3199665 rs202000864 |
71 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200293869 CA113908689 |
71 | D>H | No |
ClinGen Ensembl |
|
|
CA3199666 rs764389098 |
72 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1273422627 CA359187409 |
73 | G>D | No |
ClinGen TOPMed |
|
|
COSM1725936 rs1273422627 CA359187411 |
73 | G>V | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1272185709 CA359187421 |
75 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1272185709 CA359187420 |
75 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA359187432 rs1464535741 |
77 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 79 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368315797 CA3199669 |
81 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359187486 rs1467711139 |
85 | Q>* | No |
ClinGen gnomAD |
|
|
CA359187485 rs1467711139 |
85 | Q>E | No |
ClinGen gnomAD |
|
|
CA3199703 rs548833734 |
90 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772513245 CA3199702 |
90 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760840568 CA3199704 COSM221485 |
91 | Y>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA359187538 rs1294910319 |
91 | Y>H | No |
ClinGen gnomAD |
|
|
CA3199706 rs777012072 |
92 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3199707 rs761899366 |
95 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765465053 CA359187573 |
96 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs765465053 CA3199708 |
96 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA359187578 rs1216775071 |
97 | L>F | No |
ClinGen gnomAD |
|
|
CA3199710 rs200409027 |
100 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1579645352 CA359187618 |
102 | K>R | No |
ClinGen Ensembl |
|
|
VAR_035442 rs35573613 CA113909429 |
103 | N>K | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
|
CA3199711 rs762799656 |
103 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA359187633 CA3199712 rs766373994 |
104 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373418882 CA3199713 |
105 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3199715 rs145309137 |
107 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754500671 CA3199714 |
107 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359187664 rs1374707768 |
109 | E>D | No |
ClinGen gnomAD |
|
|
rs1039457216 CA113909437 |
110 | K>E | No |
ClinGen TOPMed |
|
|
CA113909443 rs990160865 |
112 | K>E | No |
ClinGen Ensembl |
|
|
CA3199718 rs777460888 |
112 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA359187687 rs1301242530 |
113 | A>T | No |
ClinGen Ensembl |
|
|
rs2303986 CA3199719 VAR_057789 COSM1264485 |
113 | A>V | oesophagus [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3199721 rs780718485 |
114 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3199722 rs749195335 |
117 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359187718 rs1271641999 |
118 | D>Y | No |
ClinGen gnomAD |
|
|
rs986153912 CA113909465 |
119 | P>A | No |
ClinGen Ensembl |
|
| TCGA novel | 119 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373371887 CA3199723 |
120 | C>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA113909469 rs911892479 |
122 | N>S | No |
ClinGen TOPMed |
|
|
CA359187763 rs1485601585 |
124 | I>T | No |
ClinGen gnomAD |
|
|
COSM735135 CA3199726 rs539771885 |
126 | W>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3199727 rs769971378 |
128 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA113909476 rs199968007 |
131 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA113909479 rs1002582222 |
132 | L>F | No |
ClinGen TOPMed |
|
|
rs552945189 CA3199729 |
132 | L>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1441785532 CA359187824 |
133 | G>A | No |
ClinGen gnomAD |
|
|
CA3199730 rs766107659 |
136 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA113909488 rs919116192 |
138 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1394581689 CA359187864 |
139 | G>E | No |
ClinGen gnomAD |
|
|
rs1394581689 COSM326384 CA359187866 |
139 | G>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1411682327 CA359187883 |
140 | S>F | No |
ClinGen TOPMed |
|
|
rs554489516 CA113915095 |
140 | S>T | No |
ClinGen TOPMed |
|
|
CA3199753 rs774173745 |
142 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs759304695 CA3199754 |
143 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1400872643 CA359187901 |
143 | T>S | No |
ClinGen gnomAD |
|
|
CA3199756 rs775431185 |
144 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359187924 rs1561176400 |
147 | H>P | No |
ClinGen Ensembl |
|
|
CA3199760 rs753462592 |
149 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3199761 rs764959221 |
150 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3199763 rs200043905 |
153 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359187973 rs183576252 |
154 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1425768817 CA359187977 |
155 | D>A | No |
ClinGen gnomAD |
|
|
CA359187974 rs1190893461 |
155 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1190893461 CA359187976 |
155 | D>Y | No |
ClinGen gnomAD |
|
|
rs17851209 CA3199769 |
156 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs17851209 CA113915161 VAR_035443 |
156 | P>R | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA3199768 rs536955051 |
156 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3199767 rs536955051 |
156 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745666898 CA3199771 |
157 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3199774 rs760619690 |
159 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs775309425 CA3199773 |
159 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs775309425 CA359187998 |
159 | G>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3199775 rs763903235 |
160 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs761391233 CA3199777 |
161 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761391233 CA359188007 |
161 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3199779 rs750033423 |
162 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3199780 rs755410588 |
162 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755410588 CA3199782 |
162 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3199781 rs755410588 |
162 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs924000792 CA113915208 |
166 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3199784 rs778119880 |
166 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs147533644 CA3199785 |
167 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3199788 rs746039910 |
168 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359188046 rs1415427324 |
168 | F>V | No |
ClinGen gnomAD |
|
|
CA359188066 rs368430479 |
171 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368430479 CA3199790 |
171 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1432034 rs145787281 CA3199791 |
173 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs148979217 CA3199792 |
173 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs776702691 CA3199793 |
174 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776702691 CA359188086 |
174 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3199794 rs761409883 |
177 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1385037812 CA359188111 |
178 | L>* | No |
ClinGen TOPMed |
|
|
rs1312856432 CA359188120 |
179 | D>G | No |
ClinGen gnomAD |
|
|
rs1579656175 CA359188153 |
184 | P>H | No |
ClinGen Ensembl |
|
| TCGA novel | 185 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs959794483 CA113915248 |
186 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs992537737 CA359188170 |
187 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3199796 rs143784162 |
187 | T>M | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs992537737 CA113915249 |
187 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA3199795 rs143784162 |
187 | T>R | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs773025569 CA3199799 |
188 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3199800 rs36124677 |
189 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765917889 CA113915270 |
190 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3199802 rs765917889 |
190 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1431964850 CA359188201 |
192 | A>V | No |
ClinGen TOPMed |
|
|
rs753154460 CA3199803 |
195 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA113915287 rs942933697 |
197 | N>I | No |
ClinGen TOPMed |
|
|
rs991649485 CA113917514 |
199 | D>G | No |
ClinGen Ensembl |
|
|
CA3199826 rs764314708 |
199 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs137857729 CA3199829 |
200 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs137857729 CA3199828 |
200 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs923436685 CA113917543 |
202 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs566464299 CA3199830 |
203 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566464299 CA113917548 |
203 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359188287 rs1423597983 |
204 | G>D | No |
ClinGen gnomAD |
|
|
rs566309974 CA113917549 |
204 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 206 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3199832 rs766626569 |
206 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164659703 CA359188333 |
211 | F>V | No |
ClinGen TOPMed |
|
|
COSM1541350 CA359188345 rs1177183015 |
212 | F>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs540931961 CA3199833 |
213 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1333615586 CA359188367 |
215 | K>N | No |
ClinGen gnomAD |
|
|
rs754827777 CA3199834 |
216 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs574244668 CA3199835 |
219 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs142401850 CA3199836 |
219 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772777023 CA3199837 |
221 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219713472 CA359188404 |
221 | S>T | No |
ClinGen gnomAD |
|
|
CA359188410 rs1272250956 |
222 | I>F | No |
ClinGen gnomAD |
|
|
CA3199838 rs563081436 |
222 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM735131 CA3199839 rs748897594 |
227 | D>Y | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs770280679 CA3199840 |
228 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3199841 rs142858482 |
229 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3199842 rs745468405 |
230 | H>Y | No |
ClinGen ExAC gnomAD |
No associated diseases with Q96C74
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| motile cilium | A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| epithelial cilium movement involved in extracellular fluid movement | The directed, self-propelled movement of cilia of epithelial cells. Depending on the type of cell, there may be one or many cilia per cell. This movement is usually coordinated between many epithelial cells, and serves to move extracellular fluid. |
| flagellated sperm motility | The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. |
| regulation of protein phosphorylation | Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein. |
| sperm capacitation | A process required for sperm to reach fertilization competence. Sperm undergo an incompletely understood series of morphological and molecular maturational processes, termed capacitation, involving, among other processes, protein tyrosine phosphorylation and increased intracellular calcium. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPLPDTMFCA | QQIHIPPELP | DILKQFTKAA | IRTQPADVLR | WSAGYFSALS | RGDPLPVKDR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MEMPTATQKT | DTGLTQGLLK | VLHKQCHHKR | YVELTDLEQK | WKNLCLPKEK | FKALLQLDPC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ENKIKWINFL | ALGCSMLGGS | LNTALKHLCE | ILTDDPEGGP | ARIPFKTFSY | VYRYLARLDS |
| 190 | 200 | 210 | 220 | ||
| DVSPLETESY | LASLKENIDA | RKNGMIGLSD | FFFPKRKLLE | SIENSEDVGH |