Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | type 2 diabetes mellitus | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28869590 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | type 2 diabetes mellitus | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28869590 | |
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# | Reference Title | Reference Citation |
1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:9452476 | PMID:12477932 | PMID:16344560 | PMID:16382103 | PMID:16421571 | PMID:20379614 | PMID:21873635 | PMID:21901158 | PMID:22747683 | PMID:23129643 | PMID:24670955 | PMID:25675513 |
PMID:28377504 | PMID:34980136 | PMID:35551387 |
KCNU1 (Homo sapiens - human) |
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Kcnu1 (Mus musculus - house mouse) |
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Kcnu1 (Rattus norvegicus - Norway rat) |
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KCNU1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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KCNU1 (Canis lupus familiaris - dog) |
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Kcnu1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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KCNU1 (Sus scrofa - pig) |
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KCNU1 (Chlorocebus sabaeus - green monkey) |
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Kcnu1 (Heterocephalus glaber - naked mole-rat) |
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Variants in KCNU1
56 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 | copy number gain | See cases [RCV000050294] | Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 | copy number gain | See cases [RCV000050904] | Chr8:25832130..48521849 [GRCh38] Chr8:25689646..49434409 [GRCh37] Chr8:25745563..49596962 [NCBI36] Chr8:8p21.2-q11.21 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 | copy number gain | See cases [RCV000050912] | Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1 | copy number loss | See cases [RCV000050745] | Chr8:34312250..43158901 [GRCh38] Chr8:34169768..43014044 [GRCh37] Chr8:34289310..43133201 [NCBI36] Chr8:8p12-11.21 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 | copy number gain | See cases [RCV000051206] | Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 | copy number gain | See cases [RCV000051110] | Chr8:12728904..41928741 [GRCh38] Chr8:12586413..41786259 [GRCh37] Chr8:12630784..41905416 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3 | copy number gain | See cases [RCV000050995] | Chr8:29719897..48521849 [GRCh38] Chr8:29577413..49434409 [GRCh37] Chr8:29633332..49596962 [NCBI36] Chr8:8p12-q11.21 |
pathogenic |
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 | copy number gain | See cases [RCV000053629] | Chr8:12609975..37892000 [GRCh38] Chr8:12467484..37749518 [GRCh37] Chr8:12511855..37868676 [NCBI36] Chr8:8p23.1-11.23 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 | copy number gain | See cases [RCV000053630] | Chr8:12609975..43336172 [GRCh38] Chr8:12467484..43191315 [GRCh37] Chr8:12511855..43310472 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] | Chr8:12609975..43255410 [GRCh38] Chr8:12467484..43110553 [GRCh37] Chr8:12511855..43229710 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 | copy number gain | See cases [RCV000053632] | Chr8:12750796..43532444 [GRCh38] Chr8:12608305..43387587 [GRCh37] Chr8:12652676..43506744 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 | copy number gain | See cases [RCV000053635] | Chr8:14940110..47929925 [GRCh38] Chr8:14797619..48842485 [GRCh37] Chr8:14841990..49005038 [NCBI36] Chr8:8p22-q11.21 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000053602] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] | Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001031836.2(KCNU1):c.81C>T (p.Phe27=) | single nucleotide variant | Malignant melanoma [RCV000068297] | Chr8:36784491 [GRCh38] Chr8:36642009 [GRCh37] Chr8:36761167 [NCBI36] Chr8:8p11.23 |
not provided |
NM_001031836.2(KCNU1):c.2508A>T (p.Ser836=) | single nucleotide variant | Malignant melanoma [RCV000068298] | Chr8:36911106 [GRCh38] Chr8:36768624 [GRCh37] Chr8:36887782 [NCBI36] Chr8:8p11.23 |
not provided |
NM_001031836.2(KCNU1):c.2736+27C>T | single nucleotide variant | Lung cancer [RCV000107361] | Chr8:36922656 [GRCh38] Chr8:36780174 [GRCh37] Chr8:8p11.23 |
uncertain significance |
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 | copy number gain | not provided [RCV000848192] | Chr8:31936551..146295771 [GRCh37] Chr8:8p12-q24.3 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 | copy number gain | See cases [RCV000135786] | Chr8:12609975..43673207 [GRCh38] Chr8:12467484..43528350 [GRCh37] Chr8:12511855..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 | copy number gain | See cases [RCV000135566] | Chr8:12383584..43673207 [GRCh38] Chr8:12241093..43528350 [GRCh37] Chr8:12285464..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 | copy number gain | See cases [RCV000136516] | Chr8:12728904..40169194 [GRCh38] Chr8:12586413..40026713 [GRCh37] Chr8:12630784..40145870 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1 | copy number loss | See cases [RCV000136878] | Chr8:29362097..40231708 [GRCh38] Chr8:29219614..40089227 [GRCh37] Chr8:29275533..40208384 [NCBI36] Chr8:8p12-11.21 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 | copy number gain | See cases [RCV000137249] | Chr8:12182421..43673207 [GRCh38] Chr8:12039930..43528350 [GRCh37] Chr8:12077339..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 | copy number gain | See cases [RCV000137807] | Chr8:226452..38021728 [GRCh38] Chr8:176452..37879246 [GRCh37] Chr8:166452..37998403 [NCBI36] Chr8:8p23.3-11.23 |
pathogenic|likely pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 | copy number gain | See cases [RCV000138643] | Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 | copy number gain | See cases [RCV000139891] | Chr8:7141697..38695546 [GRCh38] Chr8:6999219..38553064 [GRCh37] Chr8:6986629..38672221 [NCBI36] Chr8:8p23.1-11.22 |
pathogenic |
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 | copy number gain | See cases [RCV000139770] | Chr8:12729023..39235934 [GRCh38] Chr8:12586532..39093453 [GRCh37] Chr8:12630903..39212610 [NCBI36] Chr8:8p23.1-11.22 |
pathogenic |
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 | copy number gain | See cases [RCV000139582] | Chr8:36580103..59618998 [GRCh38] Chr8:36437621..60531557 [GRCh37] Chr8:36556779..60694111 [NCBI36] Chr8:8p12-q12.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 | copy number gain | See cases [RCV000139796] | Chr8:12646123..43686843 [GRCh38] Chr8:12503632..43541986 [GRCh37] Chr8:12548003..43661143 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 | copy number gain | See cases [RCV000139549] | Chr8:11851113..37216333 [GRCh38] Chr8:11708622..37073851 [GRCh37] Chr8:11746031..37193009 [NCBI36] Chr8:8p23.1-11.23 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 | copy number gain | See cases [RCV000141808] | Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 | copy number gain | See cases [RCV000142021] | Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 | copy number gain | See cases [RCV000142858] | Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 | copy number gain | See cases [RCV000143508] | Chr8:12633490..40685533 [GRCh38] Chr8:12490999..40543052 [GRCh37] Chr8:12535370..40662209 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 | copy number gain | See cases [RCV000148237] | Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 | copy number gain | See cases [RCV000148249] | Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000148092] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 | copy number gain | See cases [RCV000511325] | Chr8:12528482..39593802 [GRCh37] Chr8:8p23.1-11.22 |
pathogenic |
Single allele | complex | 8p inverted duplication/deletion syndrome [RCV002280753] | Chr8:158048..43019304 [GRCh37] Chr8:8p23.3-11.21 |
pathogenic |
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 | copy number gain | See cases [RCV000446588] | Chr8:24772064..24813176 [GRCh37] Chr8:8p21.2-q12.1 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 | copy number gain | See cases [RCV000447507] | Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 | copy number gain | See cases [RCV000447909] | Chr8:158048..43786723 [GRCh37] Chr8:8p23.3-11.1 |
pathogenic |
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 | copy number gain | See cases [RCV000447913] | Chr8:12580132..43388233 [GRCh37] Chr8:8p23.1-11.1 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) | copy number gain | See cases [RCV000510234] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 | copy number gain | See cases [RCV000511028] | Chr8:11935023..43824035 [GRCh37] Chr8:8p23.1-11.1 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 | copy number gain | See cases [RCV000511095] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001031836.3(KCNU1):c.231T>A (p.His77Gln) | single nucleotide variant | Inborn genetic diseases [RCV003248442] | Chr8:36787341 [GRCh38] Chr8:36644859 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.1968G>T (p.Arg656Ser) | single nucleotide variant | Inborn genetic diseases [RCV003288154] | Chr8:36864480 [GRCh38] Chr8:36721998 [GRCh37] Chr8:8p11.23 |
uncertain significance |
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 | copy number gain | See cases [RCV000512169] | Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3 |
pathogenic |
GRCh37/hg19 8p12-11.21(chr8:31352498-41481295)x3 | copy number gain | not provided [RCV000683035] | Chr8:31352498..41481295 [GRCh37] Chr8:8p12-11.21 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 | copy number gain | not provided [RCV000747254] | Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 | copy number gain | not provided [RCV000747248] | Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001031836.3(KCNU1):c.1910T>C (p.Met637Thr) | single nucleotide variant | Inborn genetic diseases [RCV003268038] | Chr8:36864422 [GRCh38] Chr8:36721940 [GRCh37] Chr8:8p11.23 |
uncertain significance |
GRCh37/hg19 8p12-11.23(chr8:36486830-37992515)x1 | copy number loss | See cases [RCV000790586] | Chr8:36486830..37992515 [GRCh37] Chr8:8p12-11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.2727G>C (p.Leu909=) | single nucleotide variant | not provided [RCV000948339] | Chr8:36922620 [GRCh38] Chr8:36780138 [GRCh37] Chr8:8p11.23 |
benign |
NM_001031836.3(KCNU1):c.3364T>A (p.Leu1122Ile) | single nucleotide variant | Inborn genetic diseases [RCV003270372] | Chr8:36935834 [GRCh38] Chr8:36793352 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.2843C>A (p.Ala948Glu) | single nucleotide variant | Inborn genetic diseases [RCV003270632] | Chr8:36931057 [GRCh38] Chr8:36788575 [GRCh37] Chr8:8p11.23 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 | copy number gain | not provided [RCV000848478] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p12-11.1(chr8:36094421-43822214)x3 | copy number gain | not provided [RCV000848822] | Chr8:36094421..43822214 [GRCh37] Chr8:8p12-11.1 |
uncertain significance |
NM_001031836.3(KCNU1):c.106T>C (p.Phe36Leu) | single nucleotide variant | Inborn genetic diseases [RCV003239604] | Chr8:36784516 [GRCh38] Chr8:36642034 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.2925C>T (p.Asp975=) | single nucleotide variant | not provided [RCV000952554] | Chr8:36931139 [GRCh38] Chr8:36788657 [GRCh37] Chr8:8p11.23 |
benign |
NM_001031836.3(KCNU1):c.2731G>A (p.Ala911Thr) | single nucleotide variant | not provided [RCV000907550] | Chr8:36922624 [GRCh38] Chr8:36780142 [GRCh37] Chr8:8p11.23 |
benign |
NM_001031836.3(KCNU1):c.990A>C (p.Gly330=) | single nucleotide variant | not provided [RCV000956593] | Chr8:36815682 [GRCh38] Chr8:36673200 [GRCh37] Chr8:8p11.23 |
benign |
NM_001031836.3(KCNU1):c.1437A>G (p.Lys479=) | single nucleotide variant | not provided [RCV000956594] | Chr8:36836864 [GRCh38] Chr8:36694382 [GRCh37] Chr8:8p11.23 |
benign |
NM_001031836.3(KCNU1):c.2522-8C>T | single nucleotide variant | not provided [RCV000956595] | Chr8:36918815 [GRCh38] Chr8:36776333 [GRCh37] Chr8:8p11.23 |
benign |
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) | copy number gain | Abnormal fetal cardiovascular morphology [RCV001291977] | Chr8:176814..43396776 [GRCh37] Chr8:8p23.3-11.1 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) | copy number gain | Polydactyly [RCV002280629] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001031836.3(KCNU1):c.2588C>T (p.Thr863Ile) | single nucleotide variant | Inborn genetic diseases [RCV003295094] | Chr8:36918889 [GRCh38] Chr8:36776407 [GRCh37] Chr8:8p11.23 |
likely benign |
NM_001031836.3(KCNU1):c.2144A>G (p.His715Arg) | single nucleotide variant | Spermatogenic failure 79 [RCV003152322] | Chr8:36909348 [GRCh38] Chr8:36766866 [GRCh37] Chr8:8p11.23 |
pathogenic |
NM_001031836.3(KCNU1):c.1237A>T (p.Ile413Phe) | single nucleotide variant | Spermatogenic failure 79 [RCV003152321] | Chr8:36834810 [GRCh38] Chr8:36692328 [GRCh37] Chr8:8p11.23 |
pathogenic |
Single allele | complex | See cases [RCV002292428] | Chr8:6999114..11935023 [GRCh37] Chr8:8p23.3-11.21 |
pathogenic |
NM_001031836.3(KCNU1):c.1586G>A (p.Arg529His) | single nucleotide variant | Inborn genetic diseases [RCV003279384] | Chr8:36840530 [GRCh38] Chr8:36698048 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.1295+3A>C | single nucleotide variant | Spermatogenic failure 79 [RCV003152323] | Chr8:36834871 [GRCh38] Chr8:36692389 [GRCh37] Chr8:8p11.23 |
pathogenic |
GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1 | copy number loss | not provided [RCV002472596] | Chr8:26808969..38346383 [GRCh37] Chr8:8p21.2-11.22 |
pathogenic |
NM_001031836.3(KCNU1):c.1060C>T (p.Arg354Cys) | single nucleotide variant | Inborn genetic diseases [RCV003307273] | Chr8:36817714 [GRCh38] Chr8:36675232 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.1063G>A (p.Asp355Asn) | single nucleotide variant | Inborn genetic diseases [RCV002992115] | Chr8:36817717 [GRCh38] Chr8:36675235 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.2855C>T (p.Thr952Met) | single nucleotide variant | Inborn genetic diseases [RCV002841286] | Chr8:36931069 [GRCh38] Chr8:36788587 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.884T>C (p.Phe295Ser) | single nucleotide variant | Inborn genetic diseases [RCV002817370] | Chr8:36814358 [GRCh38] Chr8:36671876 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.2959T>C (p.Cys987Arg) | single nucleotide variant | Inborn genetic diseases [RCV002883916] | Chr8:36932947 [GRCh38] Chr8:36790465 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.3025C>T (p.Leu1009Phe) | single nucleotide variant | Inborn genetic diseases [RCV002945932] | Chr8:36933013 [GRCh38] Chr8:36790531 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.1978A>G (p.Ser660Gly) | single nucleotide variant | Inborn genetic diseases [RCV002968472] | Chr8:36864490 [GRCh38] Chr8:36722008 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.727C>T (p.His243Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002839769] | Chr8:36808788 [GRCh38] Chr8:36666306 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.2255T>C (p.Val752Ala) | single nucleotide variant | Inborn genetic diseases [RCV002694614] | Chr8:36909459 [GRCh38] Chr8:36766977 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.2207T>A (p.Met736Lys) | single nucleotide variant | Inborn genetic diseases [RCV002783265] | Chr8:36909411 [GRCh38] Chr8:36766929 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.3013G>T (p.Asp1005Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002884291] | Chr8:36933001 [GRCh38] Chr8:36790519 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.1385C>A (p.Pro462His) | single nucleotide variant | Inborn genetic diseases [RCV002888574] | Chr8:36836812 [GRCh38] Chr8:36694330 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.1885A>G (p.Ile629Val) | single nucleotide variant | Inborn genetic diseases [RCV003001664] | Chr8:36845893 [GRCh38] Chr8:36703411 [GRCh37] Chr8:8p11.23 |
likely benign |
NM_001031836.3(KCNU1):c.890C>T (p.Thr297Ile) | single nucleotide variant | Inborn genetic diseases [RCV002704742] | Chr8:36814364 [GRCh38] Chr8:36671882 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.1958C>T (p.Ser653Phe) | single nucleotide variant | Inborn genetic diseases [RCV002955585] | Chr8:36864470 [GRCh38] Chr8:36721988 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.2408C>G (p.Pro803Arg) | single nucleotide variant | Inborn genetic diseases [RCV002768707] | Chr8:36911006 [GRCh38] Chr8:36768524 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.371C>T (p.Ser124Phe) | single nucleotide variant | Inborn genetic diseases [RCV003004081] | Chr8:36804082 [GRCh38] Chr8:36661600 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.2147T>C (p.Ile716Thr) | single nucleotide variant | Inborn genetic diseases [RCV002919487] | Chr8:36909351 [GRCh38] Chr8:36766869 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.644C>T (p.Ala215Val) | single nucleotide variant | Inborn genetic diseases [RCV002788413] | Chr8:36807438 [GRCh38] Chr8:36664956 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.1025T>C (p.Val342Ala) | single nucleotide variant | Inborn genetic diseases [RCV002670228] | Chr8:36817679 [GRCh38] Chr8:36675197 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.2408C>T (p.Pro803Leu) | single nucleotide variant | Inborn genetic diseases [RCV002879227] | Chr8:36911006 [GRCh38] Chr8:36768524 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.1964C>T (p.Pro655Leu) | single nucleotide variant | Inborn genetic diseases [RCV002960748] | Chr8:36864476 [GRCh38] Chr8:36721994 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.3356A>G (p.Gln1119Arg) | single nucleotide variant | Inborn genetic diseases [RCV002959385] | Chr8:36935826 [GRCh38] Chr8:36793344 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.323T>C (p.Leu108Pro) | single nucleotide variant | Inborn genetic diseases [RCV002769581] | Chr8:36804034 [GRCh38] Chr8:36661552 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.2355C>A (p.Asp785Glu) | single nucleotide variant | Inborn genetic diseases [RCV002648724] | Chr8:36910953 [GRCh38] Chr8:36768471 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.2117G>T (p.Gly706Val) | single nucleotide variant | Inborn genetic diseases [RCV002680161] | Chr8:36909321 [GRCh38] Chr8:36766839 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.826A>G (p.Thr276Ala) | single nucleotide variant | Inborn genetic diseases [RCV002678341] | Chr8:36814300 [GRCh38] Chr8:36671818 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.878T>A (p.Ile293Asn) | single nucleotide variant | Inborn genetic diseases [RCV002652886] | Chr8:36814352 [GRCh38] Chr8:36671870 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.1558A>G (p.Ser520Gly) | single nucleotide variant | Inborn genetic diseases [RCV003196776] | Chr8:36840502 [GRCh38] Chr8:36698020 [GRCh37] Chr8:8p11.23 |
likely benign |
NM_001031836.3(KCNU1):c.3389A>G (p.Glu1130Gly) | single nucleotide variant | Inborn genetic diseases [RCV003178153] | Chr8:36935859 [GRCh38] Chr8:36793377 [GRCh37] Chr8:8p11.23 |
likely benign |
NM_001031836.3(KCNU1):c.3377C>A (p.Ala1126Glu) | single nucleotide variant | Inborn genetic diseases [RCV003200040] | Chr8:36935847 [GRCh38] Chr8:36793365 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.941T>A (p.Leu314Gln) | single nucleotide variant | Inborn genetic diseases [RCV003173840] | Chr8:36815633 [GRCh38] Chr8:36673151 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.68T>A (p.Ile23Asn) | single nucleotide variant | Inborn genetic diseases [RCV003308577] | Chr8:36784478 [GRCh38] Chr8:36641996 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.946G>A (p.Ala316Thr) | single nucleotide variant | Inborn genetic diseases [RCV003263092] | Chr8:36815638 [GRCh38] Chr8:36673156 [GRCh37] Chr8:8p11.23 |
uncertain significance |
GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3 | copy number gain | See cases [RCV003329560] | Chr8:36763176..50929707 [GRCh37] Chr8:8p11.23-q11.21 |
pathogenic |
NM_001031836.3(KCNU1):c.520G>A (p.Val174Ile) | single nucleotide variant | Inborn genetic diseases [RCV003341336] | Chr8:36806320 [GRCh38] Chr8:36663838 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.1211C>T (p.Ala404Val) | single nucleotide variant | Inborn genetic diseases [RCV003347067] | Chr8:36833658 [GRCh38] Chr8:36691176 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.1493C>T (p.Ser498Phe) | single nucleotide variant | Inborn genetic diseases [RCV003348519] | Chr8:36836920 [GRCh38] Chr8:36694438 [GRCh37] Chr8:8p11.23 |
uncertain significance |
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3 | copy number gain | not provided [RCV003484724] | Chr8:12560782..38748763 [GRCh37] Chr8:8p23.1-11.22 |
pathogenic |
NM_001031836.3(KCNU1):c.2183C>T (p.Pro728Leu) | single nucleotide variant | not provided [RCV003457533] | Chr8:36909387 [GRCh38] Chr8:36766905 [GRCh37] Chr8:8p11.23 |
likely benign |
Single allele | duplication | not provided [RCV003448693] | Chr8:12530550..43483193 [GRCh37] Chr8:8p23.1-11.1 |
pathogenic |
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 | copy number gain | not provided [RCV003484713] | Chr8:2201405..41723095 [GRCh37] Chr8:8p23.2-11.21 |
pathogenic |
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 | copy number gain | not provided [RCV003484722] | Chr8:11945856..37902453 [GRCh37] Chr8:8p23.1-11.23 |
pathogenic |
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 | copy number gain | not provided [RCV003484725] | Chr8:14240573..43824035 [GRCh37] Chr8:8p22-11.1 |
pathogenic |
NM_001031836.3(KCNU1):c.3266T>C (p.Val1089Ala) | single nucleotide variant | not provided [RCV003457159] | Chr8:36935736 [GRCh38] Chr8:36793254 [GRCh37] Chr8:8p11.23 |
uncertain significance |
NM_001031836.3(KCNU1):c.1726C>A (p.Pro576Thr) | single nucleotide variant | not provided [RCV003436858] | Chr8:36845602 [GRCh38] Chr8:36703120 [GRCh37] Chr8:8p11.23 |
likely benign |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
WI-11522 |
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SHGC-80739 |
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RH121708 |
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SHGC-106159 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | adipose tissue | appendage | |
High | |||||||||||||||
Medium | 1 | 2 | 206 | 1 | |||||||||||
Low | 4 | 37 | 32 | 6 | 32 | 23 | 8 | 9 | 7 | 201 | 21 | 7 | 3 | ||
Below cutoff | 412 | 421 | 363 | 127 | 165 | 68 | 1692 | 315 | 1255 | 32 | 379 | 227 | 60 | 656 | 797 |
RefSeq Acc Id: | ENST00000399881 ⟹ ENSP00000382770 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000518904 ⟹ ENSP00000428106 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000522372 ⟹ ENSP00000428552 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000522417 ⟹ ENSP00000429149 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000523973 ⟹ ENSP00000429951 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001031836 ⟹ NP_001027006 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_134267 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011544424 ⟹ XP_011542726 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011544426 ⟹ XP_011542728 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011544427 ⟹ XP_011542729 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017013144 ⟹ XP_016868633 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_024447080 ⟹ XP_024302848 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_054359857 ⟹ XP_054215832 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054359858 ⟹ XP_054215833 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054359859 ⟹ XP_054215834 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054359860 ⟹ XP_054215835 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054359861 ⟹ XP_054215836 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_001745486 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_008487815 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | NP_001027006 ⟸ NM_001031836 |
- UniProtKB: | A8MYU2 (UniProtKB/Swiss-Prot), B4DYE4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011542728 ⟸ XM_011544426 |
- Peptide Label: | isoform X3 |
- UniProtKB: | E5RHP1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011542726 ⟸ XM_011544424 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B4DYE4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011542729 ⟸ XM_011544427 |
- Peptide Label: | isoform X5 |
- UniProtKB: | E5RHP1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016868633 ⟸ XM_017013144 |
- Peptide Label: | isoform X2 |
- UniProtKB: | B4DYE4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_024302848 ⟸ XM_024447080 |
- Peptide Label: | isoform X4 |
- UniProtKB: | E5RHP1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000382770 ⟸ ENST00000399881 |
RefSeq Acc Id: | ENSP00000428106 ⟸ ENST00000518904 |
RefSeq Acc Id: | ENSP00000429149 ⟸ ENST00000522417 |
RefSeq Acc Id: | ENSP00000428552 ⟸ ENST00000522372 |
RefSeq Acc Id: | ENSP00000429951 ⟸ ENST00000523973 |
RefSeq Acc Id: | XP_054215834 ⟸ XM_054359859 |
- Peptide Label: | isoform X3 |
- UniProtKB: | E5RHP1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054215833 ⟸ XM_054359858 |
- Peptide Label: | isoform X2 |
- UniProtKB: | B4DYE4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054215832 ⟸ XM_054359857 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B4DYE4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054215835 ⟸ XM_054359860 |
- Peptide Label: | isoform X4 |
- UniProtKB: | E5RHP1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054215836 ⟸ XM_054359861 |
- Peptide Label: | isoform X5 |
- UniProtKB: | E5RHP1 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-A8MYU2-F1-model_v2 | AlphaFold | A8MYU2 | 1-1149 | view protein structure |
RGD ID: | 7213085 | ||||||||
Promoter ID: | EPDNEW_H12288 | ||||||||
Type: | initiation region | ||||||||
Name: | KCNU1_1 | ||||||||
Description: | potassium calcium-activated channel subfamily U member 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:18867 | AgrOrtholog |
COSMIC | KCNU1 | COSMIC |
Ensembl Genes | ENSG00000215262 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000399881 | ENTREZGENE |
ENST00000399881.8 | UniProtKB/Swiss-Prot | |
ENST00000522372 | ENTREZGENE | |
ENST00000522372.5 | UniProtKB/TrEMBL | |
ENST00000522417.1 | UniProtKB/TrEMBL | |
ENST00000523973.5 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.287.70 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NAD(P)-binding Rossmann-like Domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000215262 | GTEx |
HGNC ID | HGNC:18867 | ENTREZGENE |
Human Proteome Map | KCNU1 | Human Proteome Map |
InterPro | Ion_trans_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
K_chnl_BK_asu | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
K_chnl_Slo-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Slowpoke-like_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:157855 | UniProtKB/Swiss-Prot |
NCBI Gene | 157855 | ENTREZGENE |
OMIM | 615215 | OMIM |
PANTHER | CALCIUM-ACTIVATED POTASSIUM CHANNEL ALPHA CHAIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
POTASSIUM CHANNEL SUBFAMILY U MEMBER 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | BK_channel_a | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ion_trans | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Slowpoke_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA38727 | PharmGKB |
PRINTS | BKCHANNELA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KCHANNEL | UniProtKB/TrEMBL | |
Superfamily-SCOP | Voltage-gated potassium channels | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A8MYU2 | ENTREZGENE |
B4DYE4 | ENTREZGENE, UniProtKB/TrEMBL | |
E5RGP7_HUMAN | UniProtKB/TrEMBL | |
E5RHP1 | ENTREZGENE, UniProtKB/TrEMBL | |
E5RJA6_HUMAN | UniProtKB/TrEMBL | |
KCNU1_HUMAN | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-02-10 | KCNU1 | potassium calcium-activated channel subfamily U member 1 | potassium channel, subfamily U, member 1 | Symbol and/or name change | 5135510 | APPROVED |