TENT5A (terminal nucleotidyltransferase 5A)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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55603 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Terminal nucleotidyltransferase 5A |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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TENT5A |
SynonymsGene synonyms aliases
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C6orf37, FAM46A, OI18, XTP11 |
ChromosomeChromosome number
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6 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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6q14.1 |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs1187611948 |
T>C,G |
Pathogenic |
Coding sequence variant, missense variant |
rs1311215973 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1554200371 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
rs1554200383 |
->TA |
Pathogenic |
Coding sequence variant, frameshift variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q96IP4 |
Protein name |
Terminal nucleotidyltransferase 5A (EC 2.7.7.-) (HBV X-transactivated gene 11 protein) (HBV XAg-transactivated protein 11) |
Protein function |
Probable nucleotidyltransferase that may act as a non-canonical poly(A) RNA polymerase. |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF07984 |
NTP_transf_7 |
66 → 384 |
Nucleotidyltransferase |
Domain |
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Sequence |
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Sequence length |
442 |
Interactions |
View interactions |
Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Osteogenesis imperfecta |
Osteogenesis Imperfecta, OSTEOGENESIS IMPERFECTA, TYPE XVIII |
rs72659351, rs72659354, rs72659348, rs72659355, rs137853952, rs118203996, rs137853890, rs-1, rs72659360, rs72659362, rs72659359, rs72659361, rs72659357, rs121918002, rs121918007, rs121918009, rs121918011, rs121918019, rs137853869, rs121434559, rs72659319, rs72659345, rs121912903, rs121912905, rs121912907, rs869254878, rs72658200, rs74315103, rs121912911, rs72658176, rs72656402, rs121912912, rs267606742, rs72659338, rs72645331, rs66721653, rs67368147, rs72653136, rs72653169, rs66523073, rs72656352, rs72645365, rs72667022, rs72645357, rs72656330, rs66527965, rs72645323, rs72656331, rs72667037, rs72654802, rs67682641, rs72653178, rs72653131, rs72656353, rs67828806, rs72656343, rs1906960583, rs72656314, rs67364703, rs72645347, rs72651618, rs66490707, rs72653170, rs72645320, rs137853892, rs1567856056, rs387906960, rs1555616552, rs137853865, rs137853866, rs193302872, rs193302871, rs193302873, rs137853893, rs193922137, rs72648320, rs193922138, rs193922139, rs193922140, rs193922141, rs193922143, rs193922144, rs193922145, rs193922147, rs193922148, rs193922149, rs193922151, rs193922152, rs193922154, rs72653173, rs193922155, rs193922157, rs72667023, rs193922158, rs72645328, rs193922162, rs72658154, rs193922166, rs193922167, rs193922173, rs72656387, rs193922175, rs587776916, rs398122891, rs318240762, rs372896892, rs398122834, rs749709000, rs397509383, rs397514674, rs398122518, rs398122519, rs398122520, rs387907325, rs387907333, rs387907334, rs387907354, rs387907355, rs387907356, rs387907357, rs727505392, rs786201032, rs786205217, rs786205218, rs786205219, rs786205220, rs797044559, rs794726873, rs72645353, rs869320752, rs137853943, rs797045033, rs863225043, rs869025223, rs869312908, rs878853274, rs72659347, rs72656370, rs886039693, rs67507747, rs762428889, rs72645318, rs886039880, rs369651701, rs886041866, rs886042260, rs886042286, rs886042603, rs886042897, rs72654794, rs72651642, rs140468248, rs137853944, rs1057517662, rs1057517663, rs74315111, rs72648337, rs1057518930, rs1057521085, rs1064794058, rs72658185, rs1555572249, rs67771061, rs1114167416, rs1114167417, rs72656386, rs1114167418, rs906553840, rs67729041, rs67865220, rs1114167412, rs67707918, rs68132885, rs72658119, rs72658143, rs72658150, rs72659310, rs67609234, rs1114167414, rs1114167415, rs72659325, rs67768540, rs1114167406, rs1114167405, rs1114167403, rs34940368, rs1114167402, rs72656340, rs1114167401, rs1114167400, rs72656338, rs1114167399, rs67815019, rs1114167398, rs67394386, rs1114167382, rs1114167396, rs1114167395, rs1114167381, rs1114167394, rs67445413, rs1114167380, rs1114167379, rs1114167392, rs67693970, rs1114167391, rs1114167378, rs72651661, rs1114167390, rs72651645, rs1114167389, rs1114167388, rs66555264, rs72651614, rs1114167387, rs1114167377, rs1114167375, rs1114167374, rs1114167385, rs72648326, rs72648322, rs72645369, rs1555574154, rs72645366, rs786205507, rs1114167411, rs72645356, rs72645337, rs72645334, rs72645321, rs1114167410, rs72667036, rs8179178, rs1114167408, rs1114167407, rs72667016, rs72667012, rs1114167384, rs1114167409, rs1085307634, rs1131692167, rs765659555, rs1131692326, rs1131692320, rs1135401953, rs137853883, rs1555573313, rs72667014, rs1555573621, rs1555572125, rs1260429820, rs67879854, rs1555574143, rs1328384458, rs72648343, rs1555574516, rs1555574641, rs972668240, rs72656392, rs66612022, rs66619856, rs1554395970, rs1555571755, rs1555571849, rs1555572075, rs1555572239, rs1555572458, rs1555573004, rs67543897, rs72648352, rs1555574113, rs1555574493, rs1555574497, rs1555574638, rs1555574802, rs1555571529, rs1555571647, rs1555571766, rs1555572401, rs1555572456, rs72651635, rs1555573484, rs1298621011, rs1555575086, rs1555572013, rs1555572120, rs1555572121, rs1555573039, rs1555574071, rs66664580, rs72667031, rs1555571874, rs72653151, rs72653147, rs1213427451, rs72651620, rs865999256, rs1555574144, rs1555574151, rs72645341, rs1555574496, rs1555574553, rs1555571916, rs1555178899, rs1555575370, rs1555572315, rs72645361, rs113994016, rs781272386, rs1554397369, rs1555572406, rs72651634, rs139593707, rs1555572316, rs72651640, rs1554396283, rs763159520, rs72658127, rs1553143741, rs1553143142, rs1554200383, rs1187611948, rs1554200371, rs1555572254, rs867628651, rs72653155, rs138570309, rs1410254723, rs1555573897, rs1228746935, rs72645368, rs1555574871, rs1555572640, rs1555573288, rs1555573629, rs1555575015, rs1555575889, rs1555572759, rs1555574158, rs1555574177, rs72667029, rs1555571942, rs1555574319, rs753683126, rs72651658, rs1554395470, rs1555572161, rs371243939, rs1555986267, rs1555986287, rs1555222973, rs779809838, rs1565789682, rs1557569037, rs1013320485, rs762525651, rs72656375, rs1567752926, rs1567752998, rs1567753046, rs1567753329, rs72653140, rs1567756567, rs72651644, rs1567760604, rs1567761950, rs1567763007, rs111594467, rs1567757112, rs1567759402, rs1567760123, rs67163049, rs1567756357, rs1567760736, rs1567761649, rs1567763447, rs1567763451, rs1567764387, rs1567764832, rs1567766329, rs72656326, rs1567753699, rs1567754277, rs72653168, rs72645370, rs1567762257, rs1567766338, rs72658193, rs72648357, rs1562906570, rs72659305, rs1567751388, rs1567753448, rs72651647, rs1567761800, rs1567762262, rs72648346, rs1565244847, rs1567757138, rs72656394, rs1562907287, rs1567754589, rs1598288342, rs1567855132, rs72659356, rs773269078, rs1570479611, rs762780039, rs1330779100, rs1598289920, rs72653133, rs1562906013, rs753338851, rs1570454914, rs1229143002, rs1570472113, rs137853939, rs768626850, rs1584324507, rs141011435, rs1598285120, rs72656324, rs1598288070, rs1598288593, rs1598289365, rs1598291438, rs72648330, rs1598296825, rs72648319, rs72648313, rs72645332, rs1598299070, rs1598300304, rs1473458290, rs1598285125, rs72653171, rs72653150, rs1181095991, rs1598295482, rs1598301459, rs72651667, rs1598298449, rs1597352358, rs1597355244, rs1597357740, rs1597357758, rs1597902342, rs1374482728, rs1597905563, rs1570452407, rs1570453963, rs1581634382, rs1597906442, rs1597908085, rs1597907877, rs1584316181, rs1584318953, rs72656389, rs1584319418, rs1584322737, rs1584330959, rs2586486, rs1598286543, rs72654797, rs1598288634, rs1598288656, rs1598290382, rs1598293920, rs1598295794, rs150572711, rs1598299275, rs1598300054, rs111953130, rs868166455, rs745891632, rs1021282486, rs780491808, rs1584320553, rs1598298699, rs72648321, rs1598288648, rs1598288967, rs72645352, rs1598298292, rs72645315, rs762979302, rs1598286050, rs1598301619, rs1584330396, rs72653156, rs1598295066, rs137853948, rs1598288002, rs1598289247, rs1652311421, rs1701306294, rs1906421838, rs72656351, rs72656348, rs1906537608, rs72656337, rs72656320, rs1906843530, rs1906847588, rs1906874191, rs1906878217, rs72651641, rs1907212702, rs1907330109, rs1907377731, rs1907418203, rs1907457376, rs72648333, rs1907617224, rs72667030, rs1907889665, rs1907921633, rs1908087291, rs1652352034, rs72648370, rs1555575835, rs1908083033, rs1907669327, rs112274185, rs72656327, rs1906695650, rs72645338, rs1907787005, rs1054264002, rs1791878922, rs1791894410, rs1791907178, rs369314029, rs1908050941, rs72653141, rs1907103040, rs1907351704, rs1907477506, rs1907512918, rs112042777, rs1907566530, rs1907770102, rs1791951769, rs1792108270, rs1387151592, rs72656385 |
29358272 |
Breast carcinoma |
Breast Carcinoma |
rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038 |
29059683 |
Coronary artery disease |
Coronary Artery Disease |
rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 |
30104761 |
Osteoporosis |
Generalized osteoporosis |
rs72658152, rs72667023, rs587776916, rs72656370, rs768615287 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Micrognathism |
Micrognathism |
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Motor delay |
Clumsiness - motor delay |
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