Q9UHG0
PR
Gene name |
DCDC2 (KIAA1154, RU2) |
Protein name |
Doublecortin domain-containing protein 2 |
Names |
Protein RU2S |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51473 |
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 Q9UHG0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2DNF | NMR | - | A | 132-226 | PDB |
| AF-Q9UHG0-F1 | Predicted | AlphaFoldDB |
356 variants for Q9UHG0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_077245 RCV000477748 rs1042640142 |
17 | K>N | Isolated neonatal sclerosing cholangitis NSC; loss of localization to the cilium axoneme [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV001088767 rs745333409 RCV000728139 |
23 | R>L | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002515058 RCV001335811 RCV000157643 rs757704417 RCV000477717 RCV002498782 |
42 | S>missing | Dyslexia, susceptibility to, 2 Isolated neonatal sclerosing cholangitis Autosomal recessive nonsyndromic hearing loss 66 Nephronophthisis 19 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs554313786 RCV002499355 RCV000730199 |
51 | V>L | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001175201 rs1760494153 |
75 | R>missing | Nephronophthisis 19 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776415168 RCV002499662 RCV001335812 |
93 | A>D | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002497367 RCV001039850 CA3654790 rs781510673 |
117 | V>I | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1056029060 CA136637338 RCV000530468 RCV000732878 |
119 | P>S | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA136637337 RCV002491217 rs904520404 RCV000595112 RCV001722542 |
128 | S>* | Autosomal recessive nonsyndromic hearing loss 66 Nephronophthisis 19 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000593504 RCV002483664 CA3654753 RCV001868001 rs200595563 |
149 | L>F | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_050946 RCV000542960 CA3654749 RCV000991875 rs33914824 RCV000605753 |
152 | P>A | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000477740 rs904944428 RCV000593742 RCV000692639 |
177 | I>missing | Isolated neonatal sclerosing cholangitis Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs141060456 RCV000729338 RCV001088392 RCV002535117 CA3654733 |
181 | S>R | Autosomal recessive nonsyndromic hearing loss 66 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000991435 rs1581640646 |
184 | V>missing | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA185948 RCV000157642 RCV000477678 rs730880299 |
217 | K>* | Isolated neonatal sclerosing cholangitis Nephronophthisis 19 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078767 | 217 | K>del | NSC [UniProt] | Yes | UniProt |
|
RCV001662653 CA3654698 rs2274305 RCV001662651 RCV000614196 VAR_022890 RCV001521758 RCV001662652 |
221 | S>G | Isolated neonatal sclerosing cholangitis Autosomal recessive nonsyndromic hearing loss 66 Nephronophthisis 19 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001338764 CA136636018 rs1043649931 RCV002486357 |
229 | T>A | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000729343 CA3654677 RCV001087029 rs144695853 |
239 | S>A | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001212427 rs948355469 |
243 | P>R | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002477368 RCV002529785 rs909339162 RCV000626272 CA136634455 |
257 | R>C | Autosomal recessive nonsyndromic hearing loss 66 Nephronophthisis 19 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000731135 RCV002485893 CA3654644 COSM243968 RCV002535192 RCV002535191 rs200233521 |
257 | R>H | pancreas large_intestine prostate Autosomal recessive nonsyndromic hearing loss 66 Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3654640 RCV000810568 rs200534758 |
262 | T>I | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000728636 rs146787541 RCV001731912 CA3654636 RCV002060970 |
273 | P>S | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3654633 RCV000987657 rs775868003 |
277 | K>* | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA136634449 RCV002525737 RCV002475927 rs1050411259 RCV000477711 |
297 | L>* | Isolated neonatal sclerosing cholangitis Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_078768 | 297 | L>del | NSC [UniProt] | Yes | UniProt |
|
CA3654557 RCV001805826 rs746447569 RCV000706596 |
310 | G>A | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002498862 RCV000595444 RCV002283495 RCV001814195 rs1554144869 |
315 | G>missing | Isolated neonatal sclerosing cholangitis Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs77150627 RCV002499358 RCV000730800 CA3654551 |
322 | R>P | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001840948 CA3654549 RCV003163987 CA3654550 rs146587418 |
323 | G>R | Autosomal recessive nonsyndromic hearing loss 66 Inborn genetic diseases [ClinVar] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV000730534 rs774115675 RCV002477701 RCV001380952 |
324 | A>missing | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1416369642 RCV001069721 |
324 | A>S | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000732279 RCV002535263 rs753636454 CA136622223 |
342 | R>W | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs183480366 CA3654517 RCV001855668 RCV000731829 RCV002477709 |
356 | A>T | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001054694 CA363280677 rs1393437679 |
359 | D>V | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002532682 rs757670255 RCV001868000 RCV000596391 CA3654512 |
367 | S>L | Autosomal recessive nonsyndromic hearing loss 66 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA3654500 rs773020868 RCV000817231 |
385 | P>L | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3654493 RCV002533085 COSM1076458 rs771591530 RCV000728198 RCV000813155 |
400 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium Autosomal recessive nonsyndromic hearing loss 66 Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs139858268 RCV000727868 RCV001706670 RCV000530128 CA3654488 |
403 | R>H | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000185587 rs794729665 RCV000157618 CA280061 VAR_074667 |
424 | Q>P | Autosomal recessive nonsyndromic hearing loss 66 Nonsyndromic Deafness DFNB66; results in ciliary abnormalities including increased ciliary length [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002499352 rs763350514 RCV000729754 CA3654435 |
455 | V>A | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000711409 rs9460973 RCV000615448 CA3654434 RCV001522082 VAR_050947 |
456 | K>N | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3654430 RCV000728427 RCV001862145 rs145154884 |
475 | V>M | Autosomal recessive nonsyndromic hearing loss 66 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| rs772638721 | 25 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 25 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 39 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 89 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561787158 RCV000729176 |
98 | N>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 99 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195882175 CA363278472 |
102 | I>M | No |
ClinGen gnomAD |
|
|
CA363278449 rs1487338049 |
106 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 106 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363278441 rs1262816447 |
107 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 108 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355730413 CA363278423 |
109 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs772785805 CA3654824 |
109 | P>S | No |
ClinGen ExAC |
|
|
rs767336029 CA136642859 |
110 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs767336029 CA3654822 |
110 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1484447809 CA363278411 |
111 | E>G | No |
ClinGen gnomAD |
|
|
CA3654820 rs775857205 |
112 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs761447280 CA3654821 |
112 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs770374944 CA3654818 |
114 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1479412408 CA363278385 |
115 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 116 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746210096 CA3654817 |
116 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs771269411 CA3654789 |
119 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1286510688 CA363281325 |
121 | I>M | No |
ClinGen TOPMed |
|
|
rs761093126 CA3654788 |
122 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1245224982 CA363281312 |
123 | S>N | No |
ClinGen TOPMed |
|
|
CA363281288 rs1382576882 |
126 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA363281284 rs1439438193 |
127 | V>A | No |
ClinGen gnomAD |
|
|
rs1157188557 CA363281286 |
127 | V>L | No |
ClinGen gnomAD |
|
|
COSM1076460 rs1157188557 CA363281287 |
127 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA363281277 rs904520404 |
128 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3654785 rs748123884 |
130 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449383806 CA363281268 |
130 | R>H | No |
ClinGen gnomAD |
|
|
CA136637336 rs1043146569 |
132 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1265987531 CA363281247 |
133 | K>T | No |
ClinGen gnomAD |
|
|
CA3654784 rs779076957 |
134 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs913769748 CA136637335 |
135 | L>P | No |
ClinGen Ensembl |
|
|
rs1322527238 CA363281212 |
138 | P>Q | No |
ClinGen TOPMed |
|
|
rs755971522 CA3654780 |
139 | C>G | No |
ClinGen ExAC |
|
|
rs1406269528 CA363281202 |
140 | T>A | No |
ClinGen TOPMed |
|
|
CA3654779 rs750273394 |
141 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA3654778 rs201158565 |
141 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA363281159 rs1447042577 |
144 | I>T | No |
ClinGen TOPMed |
|
|
rs1445603811 CA363281138 |
147 | G>A | No |
ClinGen gnomAD |
|
|
CA136637327 rs773615720 |
148 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs767941715 CA3654752 |
149 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA363281124 rs1258695916 |
150 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 151 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762390922 CA3654747 |
154 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3654746 rs368811969 |
155 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3654745 rs146953663 |
155 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1198035065 CA363281087 |
156 | L>H | No |
ClinGen TOPMed |
|
|
rs1442150039 CA363281081 |
157 | L>H | No |
ClinGen TOPMed |
|
|
rs201204772 CA363281065 |
160 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 160 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363281058 rs1397525594 |
161 | K>Q | No |
ClinGen gnomAD |
|
|
CA363281047 rs1157030767 |
162 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1041106151 CA136637326 |
164 | N>S | No |
ClinGen Ensembl |
|
|
CA363281029 rs1581640701 |
165 | Q>E | No |
ClinGen Ensembl |
|
|
rs777378768 CA3654740 |
166 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA3654739 rs758066502 |
168 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1002032199 CA136637325 |
169 | V>I | No |
ClinGen TOPMed |
|
|
rs1456354693 CA363280961 |
174 | T>I | No |
ClinGen gnomAD |
|
|
rs756523481 CA3654736 |
177 | I>L | No |
ClinGen ExAC gnomAD |
|
| rs904944428 | 177 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750932143 CA363280929 |
179 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3654735 rs750932143 |
179 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA363280923 rs1384792110 |
180 | R>S | No |
ClinGen TOPMed |
|
|
CA3654732 rs752020799 |
182 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3654731 rs561849262 |
186 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748032288 CA136636026 RCV000729752 CA3654715 |
186 | R>S | No |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
|
rs962012070 CA136636025 |
190 | L>F | No |
ClinGen Ensembl |
|
|
CA3654713 rs751932909 |
190 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3654712 rs778288438 |
192 | G>A | No |
ClinGen ExAC |
|
|
rs758636801 CA363280720 |
194 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758636801 CA3654711 |
194 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA136636024 rs1015049005 |
195 | V>A | No |
ClinGen gnomAD |
|
|
rs752961258 CA3654710 |
196 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 196 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3654709 rs765415280 |
197 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs960117604 CA136636022 |
199 | A>G | No |
ClinGen Ensembl |
|
|
rs1219067435 CA363280659 |
199 | A>T | No |
ClinGen gnomAD |
|
|
rs1260445882 CA363280625 |
201 | L>M | No |
ClinGen gnomAD |
|
|
rs1211478955 CA363280605 |
202 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA363280603 rs1436136924 |
202 | E>A | No |
ClinGen TOPMed |
|
|
rs1211478955 CA363280608 |
202 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs980124028 CA136636020 |
208 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs980124028 CA363280502 |
208 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs927277705 CA136636021 |
208 | V>M | No |
ClinGen TOPMed |
|
|
rs760608642 CA3654705 |
209 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3654704 rs772930898 |
210 | V>A | No |
ClinGen ExAC |
|
|
rs1279709672 CA363280481 |
210 | V>I | No |
ClinGen gnomAD |
|
|
CA363280458 rs1471269004 |
212 | R>G | No |
ClinGen Ensembl |
|
|
rs534673716 CA3654702 |
213 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3654701 rs773965859 |
216 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA363280373 rs1357403456 |
217 | K>I | No |
ClinGen gnomAD |
|
|
rs768246538 CA3654700 |
219 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 220 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363280337 rs2274305 |
221 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363280338 rs2274305 |
221 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1286173349 CA363280262 |
226 | D>G | No |
ClinGen TOPMed |
|
|
CA136636019 rs905132941 |
227 | K>N | No |
ClinGen Ensembl |
|
|
rs374355407 CA3654697 |
229 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363280160 rs1201436251 |
230 | M>I | No |
ClinGen gnomAD |
|
|
rs1469681165 CA363280144 |
231 | R>T | No |
ClinGen TOPMed |
|
|
rs758802517 CA3654694 |
232 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203518827 CA363280098 |
233 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 235 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775009498 CA3654679 |
237 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA3654674 rs148995850 |
242 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs948355469 CA136635751 |
243 | P>L | No |
ClinGen Ensembl |
|
|
rs867029190 CA136635750 |
244 | I>V | No |
ClinGen Ensembl |
|
|
rs1164066571 CA363279291 |
245 | V>A | No |
ClinGen gnomAD |
|
|
CA136635749 rs755168053 |
246 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755168053 CA3654671 |
246 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 247 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749455459 CA3654670 |
247 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA136635748 rs749455459 |
247 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3654669 rs780392836 |
248 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756157936 CA3654668 |
249 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA363279205 rs1190155886 |
252 | G>E | No |
ClinGen TOPMed |
|
|
rs956746609 CA136635747 |
253 | S>C | No |
ClinGen TOPMed |
|
|
rs935723505 CA136635746 |
253 | S>N | No |
ClinGen Ensembl |
|
|
CA136634456 rs866647738 |
254 | G>E | No |
ClinGen Ensembl |
|
|
CA363278364 rs1581627301 |
254 | G>R | No |
ClinGen Ensembl |
|
|
rs758104505 CA3654645 |
255 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA363278341 rs200233521 |
257 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764943045 CA3654643 |
258 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs759266278 CA3654642 COSM385495 |
259 | S>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA136634454 rs978693306 |
260 | K>N | No |
ClinGen TOPMed |
|
|
CA363278296 rs1427920295 |
261 | S>P | No |
ClinGen gnomAD |
|
|
CA3654639 rs765972041 |
263 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239977683 CA363278275 |
263 | V>F | No |
ClinGen gnomAD |
|
|
rs1438044739 CA363278222 |
268 | N>D | No |
ClinGen TOPMed |
|
|
CA136634453 rs928681863 |
268 | N>S | No |
ClinGen gnomAD |
|
|
CA363278218 rs928681863 |
268 | N>T | No |
ClinGen gnomAD |
|
|
CA3654638 rs370613808 |
269 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA136634451 rs960125951 |
271 | P>S | No |
ClinGen TOPMed |
|
|
rs1416618103 CA363278166 |
273 | P>L | No |
ClinGen TOPMed |
|
|
CA363278127 rs1430546962 |
276 | R>K | No |
ClinGen gnomAD |
|
|
CA3654632 rs775868003 |
277 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769937902 CA3654631 |
280 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA136634450 rs915997747 |
281 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 282 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781453322 CA3654627 |
283 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA363278041 rs1581627179 |
284 | N>D | No |
ClinGen Ensembl |
|
|
rs770912162 CA3654626 |
285 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA3654623 rs746503285 |
289 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1561755265 CA363277978 RCV000735147 |
290 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 290 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 294 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1181699754 CA363277932 |
295 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 298 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3654619 rs753533030 |
299 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA363277869 CA3654618 rs766172465 |
300 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363277866 rs766172465 |
300 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3654617 rs760084731 |
301 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs749974728 CA3654616 |
303 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs764471894 CA3654615 |
304 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 305 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel rs1581627115 CA363277797 |
307 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs756932116 CA3654558 |
308 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561889419 CA363277584 |
310 | G>S | No |
ClinGen Ensembl |
|
|
CA3654556 rs777276762 |
311 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs757960384 CA3654555 |
313 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs754360422 CA3654554 |
315 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363277548 rs1300137568 |
315 | G>E | No |
ClinGen gnomAD |
|
|
CA363277541 rs1462528643 |
317 | E>K | No |
ClinGen TOPMed |
|
|
CA363277524 rs1164672241 |
319 | S>A | No |
ClinGen gnomAD |
|
|
rs1384002223 CA363277509 |
321 | T>I | No |
ClinGen gnomAD |
|
|
rs77150627 CA136625686 |
322 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs77150627 CA136625687 |
322 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3654552 rs756475791 |
322 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA363277504 rs764260348 |
323 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA3654547 rs764260348 |
323 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA3654548 rs764260348 |
323 | G>V | No |
ClinGen ExAC gnomAD |
|
| rs774115675 | 324 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1416369642 CA363277501 |
324 | A>T | No |
ClinGen gnomAD |
|
|
rs1174976869 CA363277494 |
325 | A>E | No |
ClinGen TOPMed |
|
|
rs1180526777 CA363277495 |
325 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA363277485 rs1408902119 |
326 | E>D | No |
ClinGen TOPMed |
|
|
rs1357003478 CA363277481 |
327 | V>I | No |
ClinGen gnomAD |
|
|
rs762979285 CA136625685 |
328 | Q>E | No |
ClinGen Ensembl |
|
|
rs1314300838 CA363277474 |
328 | Q>R | No |
ClinGen gnomAD |
|
|
CA363277458 rs1288680500 |
330 | D>G | No |
ClinGen TOPMed |
|
|
CA3654544 rs150003705 |
332 | D>G | No |
ClinGen ESP ExAC TOPMed |
|
|
CA363277438 rs1380178018 |
333 | T>A | No |
ClinGen TOPMed |
|
|
CA363277435 rs1239618857 |
333 | T>N | No |
ClinGen gnomAD |
|
|
rs1472251223 CA363277425 |
335 | V>I | No |
ClinGen gnomAD |
|
|
rs187789776 CA3654543 |
337 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363277394 rs1389720008 |
340 | D>N | No |
ClinGen gnomAD |
|
|
rs1193702130 CA363280867 |
342 | R>K | No |
ClinGen gnomAD |
|
|
CA3654523 rs766600237 |
343 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3654522 rs535914952 |
346 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA363280815 rs143313706 |
348 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3654520 rs772827889 |
348 | D>G | No |
ClinGen ExAC |
|
|
rs760502604 CA3654521 |
348 | D>Y | No |
ClinGen ExAC |
|
| TCGA novel | 349 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs946583171 CA136622222 |
349 | E>K | No |
ClinGen Ensembl |
|
|
rs747652700 CA3654518 |
352 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 354 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363280722 rs1225399801 |
355 | K>N | No |
ClinGen gnomAD |
|
|
CA136622221 rs183480366 |
356 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3654516 rs770279005 |
357 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs746347880 CA3654515 |
357 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 363 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363280607 rs1407438752 |
364 | E>D | No |
ClinGen gnomAD |
|
|
rs1467761365 CA363280592 |
365 | D>E | No |
ClinGen gnomAD |
|
|
rs1178027868 CA363280597 |
365 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 366 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363280578 rs773301531 |
366 | F>L | No |
ClinGen TOPMed |
|
|
CA3654513 rs538198742 |
367 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752022886 RCV000596618 CA3654511 |
368 | G>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs778095991 CA3654510 RCV000730119 |
370 | N>D | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs911570078 CA136622217 |
370 | N>K | No |
ClinGen gnomAD |
|
|
rs201827080 CA3654509 |
370 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 375 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3654507 rs752761872 |
378 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363280439 rs1278194991 |
378 | G>D | No |
ClinGen gnomAD |
|
|
rs755149513 CA3654505 |
379 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA136622216 rs986382887 |
379 | R>K | No |
ClinGen gnomAD |
|
|
rs1228097560 CA363280425 |
379 | R>S | No |
ClinGen gnomAD |
|
|
CA3654504 rs753739433 |
381 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 382 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs180988889 CA3654502 |
383 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs953735295 CA136622215 |
384 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3654501 rs760412461 |
385 | P>A | No |
ClinGen ExAC |
|
|
rs774111540 CA3654497 |
389 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761388263 CA3654498 |
389 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768048150 CA3654496 |
390 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1445007538 CA363280269 |
391 | I>T | No |
ClinGen gnomAD |
|
|
rs973946416 CA136622213 |
391 | I>V | No |
ClinGen Ensembl |
|
|
CA363280261 rs1181609743 |
392 | L>V | No |
ClinGen gnomAD |
|
|
RCV000722698 rs1561878742 |
394 | H>missing | No |
ClinVar dbSNP |
|
|
rs34647318 CA136622212 |
394 | H>P | No |
ClinGen gnomAD |
|
|
rs34647318 CA363280229 |
394 | H>R | No |
ClinGen gnomAD |
|
|
CA363280117 rs1236928301 |
398 | Q>R | No |
ClinGen gnomAD |
|
|
CA3654494 rs777259245 |
400 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747339767 CA3654492 |
401 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs758852015 CA3654490 |
402 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363280068 rs758852015 |
402 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748310193 CA3654489 |
402 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1244351893 CA363280047 |
403 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA363280042 rs139858268 |
403 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139858268 CA363280045 |
403 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA136622211 rs143521294 |
405 | N>D | No |
ClinGen ESP gnomAD |
|
|
rs1384201245 CA363280020 |
405 | N>K | No |
ClinGen TOPMed |
|
|
CA3654486 rs549447263 |
405 | N>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000731556 CA363280014 rs1561878667 |
406 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3654483 rs149268081 |
407 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3654484 rs756047736 |
407 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3654485 rs756047736 |
407 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA3654482 rs149268081 |
407 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1367144327 CA363279992 |
408 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA363279978 rs1369820281 |
409 | D>E | No |
ClinGen gnomAD |
|
|
CA3654477 rs775174265 |
409 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3654478 rs775174265 |
409 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 411 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363279929 rs1471197198 |
413 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs771499861 CA3654476 |
413 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363279925 rs1471197198 |
413 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3654474 rs773832570 |
414 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs553676240 CA136622209 |
415 | E>K | No |
ClinGen Ensembl |
|
|
rs1490621486 CA363279892 |
416 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA136622208 rs551374870 |
417 | Q>* | No |
ClinGen Ensembl |
|
|
CA363279884 rs1429820298 |
417 | Q>R | No |
ClinGen TOPMed |
|
|
rs1294347330 CA363279879 |
418 | Q>* | No |
ClinGen gnomAD |
|
|
CA3654473 rs772289717 |
418 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs748591010 CA3654472 |
419 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA3654471 CA363279853 rs778953600 |
421 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs960014369 CA136622207 |
422 | E>G | No |
ClinGen Ensembl |
|
|
rs1405128595 CA363279799 |
426 | V>I | No |
ClinGen gnomAD |
|
|
rs375119774 CA363279773 |
428 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 428 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3654467 rs375119774 |
428 | D>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1161113374 CA363279742 |
430 | E>G | No |
ClinGen gnomAD |
|
|
rs781230955 CA3654465 RCV000731840 |
430 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1161113374 CA363279744 |
430 | E>V | No |
ClinGen gnomAD |
|
|
rs756984644 CA3654464 |
431 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363279710 rs1204218013 |
433 | S>Y | No |
ClinGen Ensembl |
|
|
rs1409784856 CA363279701 |
434 | Q>* | No |
ClinGen gnomAD |
|
|
rs1407384110 CA363279659 |
437 | G>D | No |
ClinGen TOPMed |
|
|
rs138279131 CA136622206 |
438 | S>G | No |
ClinGen ESP TOPMed |
|
|
rs1480906981 CA363279650 |
438 | S>N | No |
ClinGen gnomAD |
|
|
rs751396384 CA3654463 |
440 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA363279621 rs763616532 |
440 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3654442 rs759063204 |
444 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364440706 CA363278735 |
444 | D>V | No |
ClinGen gnomAD |
|
|
CA3654440 rs753419903 |
445 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767844134 CA3654439 |
447 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA363278715 rs1301344173 |
448 | Q>K | No |
ClinGen gnomAD |
|
|
rs903961230 CA136621790 |
451 | P>S | No |
ClinGen gnomAD |
|
|
rs745504901 CA3654437 |
452 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 455 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3654433 rs770029938 |
457 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA363278641 rs1422463735 |
459 | S>T | No |
ClinGen gnomAD |
|
|
CA363278635 rs1253412168 |
460 | P>A | No |
ClinGen gnomAD |
|
|
CA363278637 RCV000732789 rs1253412168 |
460 | P>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs866532419 CA136621788 |
461 | E>* | No |
ClinGen Ensembl |
|
|
rs1561877167 CA363278608 RCV000728563 |
464 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1199356737 CA363278597 |
465 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs745898766 CA3654432 |
466 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA363278580 rs1462483590 |
467 | Q>R | No |
ClinGen TOPMed |
|
|
rs1252683584 CA363278577 |
468 | Q>K | No |
ClinGen gnomAD |
|
|
rs140626877 CA136621787 |
469 | N>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1341118731 CA363278565 |
469 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs943872438 CA136621786 |
471 | D>V | No |
ClinGen gnomAD |
|
|
CA363278543 rs1248021963 |
472 | Y>C | No |
ClinGen gnomAD |
|
|
rs1581566502 CA363278538 |
473 | A>T | No |
ClinGen Ensembl |
|
|
CA363278526 rs145154884 |
475 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA136621785 rs952408909 |
476 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA136621784 rs892067135 |
477 | A>Q | No |
ClinGen TOPMed |
4 associated diseases with Q9UHG0
[MIM: 600202]: Dyslexia 2 (DYX2)
A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability. {ECO:0000269|PubMed:16278297}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 616217]: Nephronophthisis 19 (NPHP19)
A form of nephronophthisis, an autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease. NPHP19 patients also manifest hepatosplenomegaly, hepatic fibrosis, destruction of the bile ducts, focal bile ductal proliferation, ductal plate malformation, and cholestasis. {ECO:0000269|PubMed:25557784}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 610212]: Deafness, autosomal recessive, 66 (DFNB66)
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:25601850}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 617394]: Sclerosing cholangitis, neonatal (NSC)
An autosomal recessive form of liver disease with onset in infancy. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis. Cholangiography shows patent biliary ducts, but there are bile duct irregularities. {ECO:0000269|PubMed:27319779, ECO:0000269|PubMed:27469900}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability. {ECO:0000269|PubMed:16278297}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- A form of nephronophthisis, an autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease. NPHP19 patients also manifest hepatosplenomegaly, hepatic fibrosis, destruction of the bile ducts, focal bile ductal proliferation, ductal plate malformation, and cholestasis. {ECO:0000269|PubMed:25557784}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:25601850}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive form of liver disease with onset in infancy. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis. Cholangiography shows patent biliary ducts, but there are bile duct irregularities. {ECO:0000269|PubMed:27319779, ECO:0000269|PubMed:27469900}. Note=The disease is caused by variants affecting the gene represented in this entry.
3 regional properties for Q9UHG0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Doublecortin domain | 12 - 100 | IPR003533-1 |
| domain | Doublecortin domain | 134 - 221 | IPR003533-2 |
| domain | Doublecortin domain-containing protein 2, doublecortin-like domain 2 | 138 - 217 | IPR033036 |
Functions
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| axoneme | The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. |
| centriolar satellite | A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; centriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome. |
| 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. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| kinocilium | A nonmotile primary cilium that is found at the apical surface of auditory receptor cells. The kinocilium is surrounded by actin-based stereocilia. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
| microtubule cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. |
| microtubule organizing center | An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides. |
| mitotic spindle | A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| kinesin binding | Interacting selectively and non-covalently and stoichiometrically with kinesin, a member of a superfamily of microtubule-based motor proteins that perform force-generating tasks such as organelle transport and chromosome segregation. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular defense response | A defense response that is mediated by cells. |
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| dendrite morphogenesis | The process in which the anatomical structures of a dendrite are generated and organized. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| neuron migration | The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature. |
| positive regulation of smoothened signaling pathway | Any process that activates or increases the frequency, rate or extent of smoothened signaling. |
| regulation of cilium assembly | Any process that modulates the frequency, rate or extent of cilium assembly. |
| regulation of Wnt signaling pathway | Any process that modulates the frequency, rate or extent of the activity of the Wnt signal transduction pathway. |
| sensory perception of sound | The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9VUI3 | DCX-EMAP | Echinoderm microtubule-associated protein-like CG42247 | Drosophila melanogaster (Fruit fly) | PR |
| O15075 | DCLK1 | Serine/threonine-protein kinase DCLK1 | Homo sapiens (Human) | EV |
| Q9JLM8 | Dclk1 | Serine/threonine-protein kinase DCLK1 | Mus musculus (Mouse) | SS |
| Q5DU00 | Dcdc2 | Doublecortin domain-containing protein 2 | Mus musculus (Mouse) | PR |
| Q95QC4 | zyg-8 | Serine/threonine-protein kinase zyg-8 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSGSSARSSH | LSQPVVKSVL | VYRNGDPFYA | GRRVVIHEKK | VSSFEVFLKE | VTGGVQAPFG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AVRNIYTPRT | GHRIRKLDQI | QSGGNYVAGG | QEAFKKLNYL | DIGEIKKRPM | EVVNTEVKPV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IHSRINVSAR | FRKPLQEPCT | IFLIANGDLI | NPASRLLIPR | KTLNQWDHVL | QMVTEKITLR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SGAVHRLYTL | EGKLVESGAE | LENGQFYVAV | GRDKFKKLPY | SELLFDKSTM | RRPFGQKASS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LPPIVGSRKS | KGSGNDRHSK | STVGSSDNSS | PQPLKRKGKK | EDVNSEKLTK | LKQNVKLKNS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QETIPNSDEG | IFKAGAERSE | TRGAAEVQED | EDTQVEVPVD | QRPAEIVDEE | EDGEKANKDA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EQKEDFSGMN | GDLEEEGGRE | ATDAPEQVEE | ILDHSEQQAR | PARVNGGTDE | ENGEELQQVN |
| 430 | 440 | 450 | 460 | 470 | |
| NELQLVLDKE | RKSQGAGSGQ | DEADVDPQRP | PRPEVKITSP | EENENNQQNK | DYAAVA |