Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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6426
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Serine and arginine rich splicing factor 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
SRSF1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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ASF, NEDFBA, SF2, SF2p33, SFRS1, SRp30a |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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NEDFBA |
Chromosome
Chromosome number
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17 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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17q22 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes a member of the arginine/serine-rich splicing factor protein family. The encoded protein can either activate or repress splicing, depending on its phosphorylation state and its interaction partners. Multiple transcript variants have been |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Breast cancer |
Malignant neoplasm of breast |
rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243 View all (309 more) |
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Schizophrenia |
Schizophrenia |
rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 View all (12 more) |
16223876 |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma |
Associate
|
23071587 |
Adenocarcinoma of Lung |
Stimulate
|
23071587 |
Afibrinogenemia |
Associate
|
16611940 |
Alzheimer Disease |
Associate
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31208978 |
Arrest of spermatogenesis |
Associate
|
32614269 |
Asthma |
Associate
|
35751199 |
Atherosclerosis |
Associate
|
25904137 |
Bone Diseases |
Associate
|
38072145 |
Breast Neoplasms |
Associate
|
23284704, 24926616, 26431027, 33918758, 33992102, 35959349, 37938975 |
Carcinogenesis |
Associate
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23592547, 23748175, 27984373, 30181552, 36593359 |
Carcinoid Tumor |
Associate
|
38049848 |
Carcinoma Basal Cell |
Associate
|
35056447 |
Carcinoma Hepatocellular |
Associate
|
34486474 |
Carcinoma Non Small Cell Lung |
Associate
|
21622622, 23071587, 23658645, 30181552 |
Carcinoma Ovarian Epithelial |
Associate
|
23390377, 23748175 |
Carcinoma Renal Cell |
Associate
|
21082031, 36062189 |
Carcinoma Squamous Cell |
Associate
|
23071587 |
Choriocarcinoma |
Associate
|
23284704 |
Colorectal Neoplasms |
Associate
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20938052, 26887056 |
Coronary Disease |
Associate
|
25904137 |
COVID 19 |
Associate
|
33299552 |
Developmental Disabilities |
Associate
|
37071997 |
Diabetes Mellitus |
Associate
|
34196424 |
Endplate Acetylcholinesterase Deficiency |
Associate
|
26282582 |
Fanconi Anemia |
Associate
|
34404366 |
Glioblastoma |
Associate
|
29415469, 33562358 |
Granulomatous Disease Chronic |
Associate
|
28886419 |
Heart Diseases |
Associate
|
37071997 |
Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
37938975 |
HIV Infections |
Inhibit
|
36458014 |
Hypoxia |
Stimulate
|
29606096 |
Infertility |
Associate
|
32614269 |
Infertility Male |
Associate
|
32614269 |
Intellectual Disability |
Associate
|
37071997 |
Leukemia |
Associate
|
22839530, 30320932 |
Leukemia Myelogenous Chronic BCR ABL Positive |
Associate
|
32051529 |
Leukemia Myeloid Acute |
Associate
|
29764005 |
Leukoencephalopathy Progressive Multifocal |
Associate
|
23672192 |
Lung Neoplasms |
Associate
|
31491447 |
Lupus Erythematosus Systemic |
Associate
|
20118245, 24368769, 26134847 |
Lupus Erythematosus Systemic |
Inhibit
|
23319613, 33982889 |
Lymphoma |
Associate
|
31209069 |
Meningioma |
Associate
|
30594554 |
Mesothelioma Malignant |
Associate
|
34207798 |
Mouth Neoplasms |
Stimulate
|
39227899 |
Multiple Myeloma |
Associate
|
36535935, 36593359 |
Muscle Hypotonia |
Associate
|
37071997 |
Myasthenia Gravis |
Associate
|
18545673 |
Myasthenic Syndromes Congenital |
Associate
|
26282582 |
Myotonia with Skeletal Abnormalities and Mental Retardation |
Associate
|
37071997 |
Myotonic Dystrophy |
Associate
|
24371143 |
Nasopharyngeal Carcinoma |
Associate
|
36199071 |
Neoplasm Metastasis |
Associate
|
16364913, 23748175 |
Neoplasms |
Associate
|
10944602, 20139984, 20864806, 20938052, 21082031, 22859706, 23284704, 23390377, 23478443, 23592547, 23966470, 24550521, 26047612, 26431027, 26704980, 27019673, 30087231, 30320932, 30658617, 32819370, 34207798, 35056447, 36535935, 37973660 View all (9 more) |
Neoplasms |
Stimulate
|
20460515, 23748175, 25845590, 33992102 |
Neurobehavioral Manifestations |
Associate
|
37071997 |
Osteoporosis |
Associate
|
38072145 |
Ovarian Neoplasms |
Associate
|
23748175 |
Pancreatic Neoplasms |
Associate
|
32819370, 35442145 |
Paraproteinemias |
Associate
|
36593359 |
Pituitary Neoplasms |
Associate
|
33261069 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
22839530, 30320932 |
Primary Ovarian Insufficiency |
Associate
|
37847421 |
Prostatic Neoplasms |
Associate
|
20460515, 28677791, 34196424 |
Prostatitis |
Associate
|
35056447 |
Renal Insufficiency |
Associate
|
24997640 |
Small Cell Lung Carcinoma |
Associate
|
27093186 |
Smoke Inhalation Injury |
Associate
|
32614269 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
39227899 |
Stomach Neoplasms |
Associate
|
31235999, 34001131 |
Uterine Cervical Dysplasia |
Associate
|
34404366 |
Uterine Cervical Neoplasms |
Associate
|
19718710, 20519389, 27984373, 34404366 |
Uterine Cervicitis |
Associate
|
19718710, 20519389 |
|