Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | TRANK1 | Human | bipolar disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:31043756 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | TRANK1 | Human | bipolar disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:31043756 | |
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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:9205841 | PMID:10737800 | PMID:14702039 | PMID:15146197 | PMID:21282530 | PMID:21926972 | PMID:22182935 | PMID:23092984 | PMID:24280982 | PMID:24618891 | PMID:25056061 | PMID:31586073 |
PMID:32791513 | PMID:33737391 | PMID:34014031 | PMID:34349018 | PMID:34992606 | PMID:35256949 | PMID:36774506 |
TRANK1 (Homo sapiens - human) |
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Trank1 (Mus musculus - house mouse) |
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Trank1 (Rattus norvegicus - Norway rat) |
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Trank1 (Chinchilla lanigera - long-tailed chinchilla) |
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TRANK1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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TRANK1 (Canis lupus familiaris - dog) |
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Trank1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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TRANK1 (Sus scrofa - pig) |
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TRANK1 (Chlorocebus sabaeus - green monkey) |
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Trank1 (Heterocephalus glaber - naked mole-rat) |
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Variants in TRANK1
170 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 3p22.3-22.2(chr3:33062199-36829440)x1 | copy number loss | See cases [RCV000051510] | Chr3:33062199..36829440 [GRCh38] Chr3:33103691..36870931 [GRCh37] Chr3:33078695..36845935 [NCBI36] Chr3:3p22.3-22.2 |
pathogenic |
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 | copy number gain | See cases [RCV000051097] | Chr3:52266..37148076 [GRCh38] Chr3:93949..37189567 [GRCh37] Chr3:68949..37164571 [NCBI36] Chr3:3p26.3-22.2 |
pathogenic |
GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 | copy number gain | See cases [RCV000051720] | Chr3:11463328..38919543 [GRCh38] Chr3:11504802..38961034 [GRCh37] Chr3:11479802..38936038 [NCBI36] Chr3:3p25.3-22.2 |
pathogenic |
NM_014831.2(TRANK1):c.8323G>A (p.Glu2775Lys) | single nucleotide variant | Malignant melanoma [RCV000066017] | Chr3:36831128 [GRCh38] Chr3:36872619 [GRCh37] Chr3:36847623 [NCBI36] Chr3:3p22.2 |
not provided |
NM_014831.2(TRANK1):c.7802A>G (p.Asp2601Gly) | single nucleotide variant | Malignant melanoma [RCV000066018] | Chr3:36831649 [GRCh38] Chr3:36873140 [GRCh37] Chr3:36848144 [NCBI36] Chr3:3p22.2 |
not provided |
NM_014831.2(TRANK1):c.7535C>T (p.Ser2512Leu) | single nucleotide variant | Malignant melanoma [RCV000066019] | Chr3:36831916 [GRCh38] Chr3:36873407 [GRCh37] Chr3:36848411 [NCBI36] Chr3:3p22.2 |
not provided |
NM_014831.2(TRANK1):c.6613G>A (p.Glu2205Lys) | single nucleotide variant | Malignant melanoma [RCV000066020] | Chr3:36832838 [GRCh38] Chr3:36874329 [GRCh37] Chr3:36849333 [NCBI36] Chr3:3p22.2 |
not provided |
NM_014831.2(TRANK1):c.5013C>T (p.Phe1671=) | single nucleotide variant | Malignant melanoma [RCV000066021] | Chr3:36846294 [GRCh38] Chr3:36887785 [GRCh37] Chr3:36862789 [NCBI36] Chr3:3p22.2 |
not provided |
NM_001329998.2(TRANK1):c.2833G>A (p.Val945Ile) | single nucleotide variant | Autism spectrum disorder [RCV001291338] | Chr3:36856889 [GRCh38] Chr3:36898380 [GRCh37] Chr3:3p22.2 |
association |
NM_001329998.2(TRANK1):c.6458C>A (p.Thr2153Lys) | single nucleotide variant | Autism spectrum disorder [RCV001291339] | Chr3:36833125 [GRCh38] Chr3:36874616 [GRCh37] Chr3:3p22.2 |
association |
NM_000249.3(MLH1):c.-54519_1731+2263del | deletion | Lynch syndrome [RCV000075065] | Chr3:36939029..37044594 [GRCh38] Chr3:36980520..37086085 [GRCh37] Chr3:3p22.2 |
pathogenic |
GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3 | copy number gain | See cases [RCV000134924] | Chr3:33728406..40662451 [GRCh38] Chr3:33769898..40703942 [GRCh37] Chr3:33744902..40678946 [NCBI36] Chr3:3p22.3-22.1 |
pathogenic |
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 | copy number gain | See cases [RCV000141810] | Chr3:53308..41381521 [GRCh38] Chr3:94991..41423012 [GRCh37] Chr3:69991..41398016 [NCBI36] Chr3:3p26.3-22.1 |
pathogenic |
GRCh38/hg38 3p22.2(chr3:36828515-37007227)x1 | copy number loss | See cases [RCV000142863] | Chr3:36828515..37007227 [GRCh38] Chr3:36870006..37048718 [GRCh37] Chr3:36845010..37023722 [NCBI36] Chr3:3p22.2 |
pathogenic |
GRCh38/hg38 3p22.2(chr3:36935294-37058124)x3 | copy number gain | See cases [RCV000142758] | Chr3:36935294..37058124 [GRCh38] Chr3:36976785..37099615 [GRCh37] Chr3:36951789..37074619 [NCBI36] Chr3:3p22.2 |
benign |
GRCh37/hg19 3p22.2(chr3:36948416-37016154)x1 | copy number loss | See cases [RCV000447421] | Chr3:36948416..37016154 [GRCh37] Chr3:3p22.2 |
uncertain significance |
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 | copy number gain | See cases [RCV000511463] | Chr3:61891..37459464 [GRCh37] Chr3:3p26.3-22.2 |
pathogenic |
NM_001329998.2(TRANK1):c.6164C>A (p.Thr2055Lys) | single nucleotide variant | not specified [RCV004296029] | Chr3:36833419 [GRCh38] Chr3:36874910 [GRCh37] Chr3:3p22.2 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) | copy number gain | See cases [RCV000512358] | Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_001329998.2(TRANK1):c.4273A>G (p.Arg1425Gly) | single nucleotide variant | not specified [RCV004287564] | Chr3:36855449 [GRCh38] Chr3:36896940 [GRCh37] Chr3:3p22.2 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 | copy number gain | See cases [RCV000511055] | Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_001329998.2(TRANK1):c.676G>A (p.Val226Met) | single nucleotide variant | not specified [RCV004314341] | Chr3:36892301 [GRCh38] Chr3:36933792 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.4430G>A (p.Arg1477His) | single nucleotide variant | not specified [RCV004305100] | Chr3:36855292 [GRCh38] Chr3:36896783 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.7781C>T (p.Ser2594Leu) | single nucleotide variant | not specified [RCV004289199] | Chr3:36831802 [GRCh38] Chr3:36873293 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2966A>G (p.Gln989Arg) | single nucleotide variant | not specified [RCV004316752] | Chr3:36856756 [GRCh38] Chr3:36898247 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.6475A>G (p.Ile2159Val) | single nucleotide variant | not specified [RCV004333064] | Chr3:36833108 [GRCh38] Chr3:36874599 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2257T>G (p.Cys753Gly) | single nucleotide variant | not specified [RCV004310476] | Chr3:36857465 [GRCh38] Chr3:36898956 [GRCh37] Chr3:3p22.2 |
uncertain significance |
GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3 | copy number gain | not provided [RCV000682249] | Chr3:16923595..45249923 [GRCh37] Chr3:3p24.3-21.31 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 | copy number gain | not provided [RCV000742138] | Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 | copy number gain | not provided [RCV000742133] | Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_001329998.2(TRANK1):c.3308A>C (p.Gln1103Pro) | single nucleotide variant | not specified [RCV004299531] | Chr3:36856414 [GRCh38] Chr3:36897905 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2981G>A (p.Arg994His) | single nucleotide variant | not specified [RCV004299627] | Chr3:36856741 [GRCh38] Chr3:36898232 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.3959A>G (p.Tyr1320Cys) | single nucleotide variant | not specified [RCV004288909] | Chr3:36855763 [GRCh38] Chr3:36897254 [GRCh37] Chr3:3p22.2 |
uncertain significance |
GRCh37/hg19 3p22.2(chr3:36948416-37788630)x3 | copy number gain | not provided [RCV001005424] | Chr3:36948416..37788630 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.4700T>C (p.Leu1567Pro) | single nucleotide variant | not specified [RCV004308362] | Chr3:36852195 [GRCh38] Chr3:36893686 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.5003G>A (p.Arg1668Gln) | single nucleotide variant | not specified [RCV004109003] | Chr3:36847231 [GRCh38] Chr3:36888722 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.908-2950_1078+1838del | deletion | not provided [RCV002227665] | Chr3:36872288..36877246 [GRCh38] Chr3:36913779..36918737 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.650T>C (p.Ile217Thr) | single nucleotide variant | not specified [RCV004308330] | Chr3:36892327 [GRCh38] Chr3:36933818 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.6102C>T (p.Phe2034=) | single nucleotide variant | not provided [RCV001816341] | Chr3:36833481 [GRCh38] Chr3:36874972 [GRCh37] Chr3:3p22.2 |
likely benign |
NC_000003.11:g.(?_16710965)_(41275270_?)del | deletion | not provided [RCV001958625] | Chr3:16710965..41275270 [GRCh37] Chr3:3p24.3-22.1 |
pathogenic |
NM_001329998.2(TRANK1):c.4559A>G (p.Asn1520Ser) | single nucleotide variant | not specified [RCV004294195] | Chr3:36852336 [GRCh38] Chr3:36893827 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2352T>G (p.Ser784Arg) | single nucleotide variant | not specified [RCV004302866] | Chr3:36857370 [GRCh38] Chr3:36898861 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.4565C>T (p.Ala1522Val) | single nucleotide variant | not specified [RCV004161796] | Chr3:36852330 [GRCh38] Chr3:36893821 [GRCh37] Chr3:3p22.2 |
uncertain significance |
GRCh37/hg19 3p22.2(chr3:36948417-37028790)x1 | copy number loss | not provided [RCV002473611] | Chr3:36948417..37028790 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.5795C>T (p.Ser1932Leu) | single nucleotide variant | not specified [RCV004236063] | Chr3:36833788 [GRCh38] Chr3:36875279 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.8333G>A (p.Arg2778His) | single nucleotide variant | not specified [RCV004188826] | Chr3:36831250 [GRCh38] Chr3:36872741 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.628C>T (p.Leu210Phe) | single nucleotide variant | not specified [RCV004081287] | Chr3:36892909 [GRCh38] Chr3:36934400 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.3931C>A (p.Arg1311Ser) | single nucleotide variant | not specified [RCV004225637] | Chr3:36855791 [GRCh38] Chr3:36897282 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.8158C>A (p.Gln2720Lys) | single nucleotide variant | not specified [RCV004090959] | Chr3:36831425 [GRCh38] Chr3:36872916 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.4472A>G (p.Asn1491Ser) | single nucleotide variant | not specified [RCV004209345] | Chr3:36855250 [GRCh38] Chr3:36896741 [GRCh37] Chr3:3p22.2 |
likely benign |
NM_001329998.2(TRANK1):c.7355C>T (p.Thr2452Ile) | single nucleotide variant | not specified [RCV004140712] | Chr3:36832228 [GRCh38] Chr3:36873719 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.3617A>T (p.Gln1206Leu) | single nucleotide variant | not specified [RCV004195404] | Chr3:36856105 [GRCh38] Chr3:36897596 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.7682G>A (p.Arg2561Gln) | single nucleotide variant | not specified [RCV004217866] | Chr3:36831901 [GRCh38] Chr3:36873392 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.8762A>C (p.Asp2921Ala) | single nucleotide variant | not specified [RCV004139258] | Chr3:36829611 [GRCh38] Chr3:36871102 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.416T>G (p.Val139Gly) | single nucleotide variant | not specified [RCV004226467] | Chr3:36899126 [GRCh38] Chr3:36940617 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.7975A>G (p.Ile2659Val) | single nucleotide variant | not specified [RCV004100357] | Chr3:36831608 [GRCh38] Chr3:36873099 [GRCh37] Chr3:3p22.2 |
likely benign |
NM_001329998.2(TRANK1):c.6902G>A (p.Arg2301Gln) | single nucleotide variant | not specified [RCV004241954] | Chr3:36832681 [GRCh38] Chr3:36874172 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.3616C>G (p.Gln1206Glu) | single nucleotide variant | not specified [RCV004100869] | Chr3:36856106 [GRCh38] Chr3:36897597 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2798G>A (p.Arg933Gln) | single nucleotide variant | not specified [RCV004084440] | Chr3:36856924 [GRCh38] Chr3:36898415 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.7302G>A (p.Met2434Ile) | single nucleotide variant | not specified [RCV004113779] | Chr3:36832281 [GRCh38] Chr3:36873772 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.7197G>A (p.Met2399Ile) | single nucleotide variant | not specified [RCV004108534] | Chr3:36832386 [GRCh38] Chr3:36873877 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.277G>A (p.Val93Met) | single nucleotide variant | not specified [RCV004129831] | Chr3:36903154 [GRCh38] Chr3:36944645 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.5782A>G (p.Met1928Val) | single nucleotide variant | not specified [RCV004182548] | Chr3:36833801 [GRCh38] Chr3:36875292 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.8527G>A (p.Glu2843Lys) | single nucleotide variant | not specified [RCV004198206] | Chr3:36831056 [GRCh38] Chr3:36872547 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2890C>T (p.Arg964Trp) | single nucleotide variant | not specified [RCV004151762] | Chr3:36856832 [GRCh38] Chr3:36898323 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.3283C>T (p.His1095Tyr) | single nucleotide variant | not specified [RCV004231319] | Chr3:36856439 [GRCh38] Chr3:36897930 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.4703G>A (p.Arg1568Gln) | single nucleotide variant | not specified [RCV004223067] | Chr3:36852192 [GRCh38] Chr3:36893683 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2115C>G (p.Asp705Glu) | single nucleotide variant | not specified [RCV004141286] | Chr3:36857607 [GRCh38] Chr3:36899098 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.7568G>A (p.Arg2523Gln) | single nucleotide variant | not specified [RCV004212762] | Chr3:36832015 [GRCh38] Chr3:36873506 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.4801G>C (p.Gly1601Arg) | single nucleotide variant | not specified [RCV004106530] | Chr3:36851805 [GRCh38] Chr3:36893296 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2567A>G (p.Lys856Arg) | single nucleotide variant | not specified [RCV004145763] | Chr3:36857155 [GRCh38] Chr3:36898646 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.3932G>A (p.Arg1311His) | single nucleotide variant | not specified [RCV004141721] | Chr3:36855790 [GRCh38] Chr3:36897281 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.6164C>T (p.Thr2055Met) | single nucleotide variant | not specified [RCV004211791] | Chr3:36833419 [GRCh38] Chr3:36874910 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.7223G>A (p.Arg2408Gln) | single nucleotide variant | not specified [RCV004074299] | Chr3:36832360 [GRCh38] Chr3:36873851 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.8803A>G (p.Lys2935Glu) | single nucleotide variant | not specified [RCV004131932] | Chr3:36829570 [GRCh38] Chr3:36871061 [GRCh37] Chr3:3p22.2 |
likely benign |
NM_001329998.2(TRANK1):c.1504G>T (p.Asp502Tyr) | single nucleotide variant | not specified [RCV004189379] | Chr3:36858886 [GRCh38] Chr3:36900377 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.893G>C (p.Gly298Ala) | single nucleotide variant | not specified [RCV004234442] | Chr3:36889843 [GRCh38] Chr3:36931334 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.5549G>A (p.Ser1850Asn) | single nucleotide variant | not specified [RCV004210083] | Chr3:36834876 [GRCh38] Chr3:36876367 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.4877C>T (p.Thr1626Ile) | single nucleotide variant | not specified [RCV004090885] | Chr3:36851729 [GRCh38] Chr3:36893220 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.8533G>T (p.Val2845Leu) | single nucleotide variant | not specified [RCV004197388] | Chr3:36831050 [GRCh38] Chr3:36872541 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.1819G>A (p.Val607Met) | single nucleotide variant | not specified [RCV004120831] | Chr3:36857903 [GRCh38] Chr3:36899394 [GRCh37] Chr3:3p22.2 |
likely benign |
NM_001329998.2(TRANK1):c.6958G>T (p.Ala2320Ser) | single nucleotide variant | not specified [RCV004161941] | Chr3:36832625 [GRCh38] Chr3:36874116 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.976C>T (p.Arg326Trp) | single nucleotide variant | not specified [RCV004178255] | Chr3:36874228 [GRCh38] Chr3:36915719 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.5125G>T (p.Ala1709Ser) | single nucleotide variant | not specified [RCV004148584] | Chr3:36846314 [GRCh38] Chr3:36887805 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2456C>T (p.Thr819Met) | single nucleotide variant | not specified [RCV004085193] | Chr3:36857266 [GRCh38] Chr3:36898757 [GRCh37] Chr3:3p22.2 |
likely benign |
NM_001329998.2(TRANK1):c.7580C>G (p.Ser2527Cys) | single nucleotide variant | not specified [RCV004186692] | Chr3:36832003 [GRCh38] Chr3:36873494 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.937C>A (p.Arg313Ser) | single nucleotide variant | not specified [RCV004208790] | Chr3:36874267 [GRCh38] Chr3:36915758 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.1651C>T (p.His551Tyr) | single nucleotide variant | not specified [RCV004100319] | Chr3:36858739 [GRCh38] Chr3:36900230 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.3083A>T (p.Lys1028Met) | single nucleotide variant | not specified [RCV004140802] | Chr3:36856639 [GRCh38] Chr3:36898130 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.5743G>T (p.Ala1915Ser) | single nucleotide variant | not specified [RCV004120393] | Chr3:36833840 [GRCh38] Chr3:36875331 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.7861G>T (p.Ala2621Ser) | single nucleotide variant | not specified [RCV004145540] | Chr3:36831722 [GRCh38] Chr3:36873213 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.3313G>A (p.Gly1105Arg) | single nucleotide variant | not specified [RCV004172724] | Chr3:36856409 [GRCh38] Chr3:36897900 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.3056C>T (p.Ala1019Val) | single nucleotide variant | not specified [RCV004243871] | Chr3:36856666 [GRCh38] Chr3:36898157 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.5807T>A (p.Ile1936Lys) | single nucleotide variant | not specified [RCV004164559] | Chr3:36833776 [GRCh38] Chr3:36875267 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.724A>G (p.Thr242Ala) | single nucleotide variant | not specified [RCV004126916] | Chr3:36892253 [GRCh38] Chr3:36933744 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.6073C>G (p.Gln2025Glu) | single nucleotide variant | not specified [RCV004185635] | Chr3:36833510 [GRCh38] Chr3:36875001 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2633G>A (p.Arg878Gln) | single nucleotide variant | not specified [RCV004245409] | Chr3:36857089 [GRCh38] Chr3:36898580 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.341G>A (p.Arg114His) | single nucleotide variant | not specified [RCV004240886] | Chr3:36899201 [GRCh38] Chr3:36940692 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.6089C>T (p.Ala2030Val) | single nucleotide variant | not specified [RCV004175919] | Chr3:36833494 [GRCh38] Chr3:36874985 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.5989C>T (p.Arg1997Cys) | single nucleotide variant | not specified [RCV004159458] | Chr3:36833594 [GRCh38] Chr3:36875085 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.1168C>T (p.Arg390Trp) | single nucleotide variant | not specified [RCV004076035] | Chr3:36864391 [GRCh38] Chr3:36905882 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2819G>A (p.Arg940Gln) | single nucleotide variant | not specified [RCV004170381] | Chr3:36856903 [GRCh38] Chr3:36898394 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.812A>G (p.Lys271Arg) | single nucleotide variant | not specified [RCV004221053] | Chr3:36889924 [GRCh38] Chr3:36931415 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2204A>G (p.Asp735Gly) | single nucleotide variant | not specified [RCV004227789] | Chr3:36857518 [GRCh38] Chr3:36899009 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.937C>T (p.Arg313Cys) | single nucleotide variant | not specified [RCV004201993] | Chr3:36874267 [GRCh38] Chr3:36915758 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.7255G>A (p.Val2419Met) | single nucleotide variant | not specified [RCV004221831] | Chr3:36832328 [GRCh38] Chr3:36873819 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2134G>A (p.Gly712Ser) | single nucleotide variant | not specified [RCV004150892] | Chr3:36857588 [GRCh38] Chr3:36899079 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.7417A>C (p.Asn2473His) | single nucleotide variant | not specified [RCV004244041] | Chr3:36832166 [GRCh38] Chr3:36873657 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.8157A>G (p.Ile2719Met) | single nucleotide variant | not specified [RCV004090958] | Chr3:36831426 [GRCh38] Chr3:36872917 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2942A>C (p.Gln981Pro) | single nucleotide variant | not specified [RCV004201079] | Chr3:36856780 [GRCh38] Chr3:36898271 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.901G>A (p.Val301Ile) | single nucleotide variant | not specified [RCV004201555] | Chr3:36889835 [GRCh38] Chr3:36931326 [GRCh37] Chr3:3p22.2 |
likely benign |
NM_001329998.2(TRANK1):c.7471T>C (p.Phe2491Leu) | single nucleotide variant | not specified [RCV004124773] | Chr3:36832112 [GRCh38] Chr3:36873603 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.1799A>G (p.Gln600Arg) | single nucleotide variant | not specified [RCV004178850] | Chr3:36857923 [GRCh38] Chr3:36899414 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.1678A>G (p.Ile560Val) | single nucleotide variant | not specified [RCV004153136] | Chr3:36858044 [GRCh38] Chr3:36899535 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2971C>T (p.Arg991Cys) | single nucleotide variant | not specified [RCV004209077] | Chr3:36856751 [GRCh38] Chr3:36898242 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.6583T>G (p.Phe2195Val) | single nucleotide variant | not specified [RCV004188947] | Chr3:36833000 [GRCh38] Chr3:36874491 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.5243C>T (p.Ala1748Val) | single nucleotide variant | not specified [RCV004165050] | Chr3:36842659 [GRCh38] Chr3:36884150 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.538A>G (p.Lys180Glu) | single nucleotide variant | not specified [RCV004171870] | Chr3:36895654 [GRCh38] Chr3:36937145 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.7982G>A (p.Arg2661His) | single nucleotide variant | not provided [RCV003883938]|not specified [RCV004219284] | Chr3:36831601 [GRCh38] Chr3:36873092 [GRCh37] Chr3:3p22.2 |
likely benign|uncertain significance |
NM_001329998.2(TRANK1):c.5347A>G (p.Thr1783Ala) | single nucleotide variant | not specified [RCV004180420] | Chr3:36838650 [GRCh38] Chr3:36880141 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.3839A>G (p.Gln1280Arg) | single nucleotide variant | not specified [RCV004069614] | Chr3:36855883 [GRCh38] Chr3:36897374 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.7122G>C (p.Arg2374Ser) | single nucleotide variant | not specified [RCV004154720] | Chr3:36832461 [GRCh38] Chr3:36873952 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2774C>T (p.Thr925Met) | single nucleotide variant | not specified [RCV004144578] | Chr3:36856948 [GRCh38] Chr3:36898439 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.3164G>C (p.Gly1055Ala) | single nucleotide variant | not specified [RCV004174798] | Chr3:36856558 [GRCh38] Chr3:36898049 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.3488G>A (p.Gly1163Glu) | single nucleotide variant | not specified [RCV004165895] | Chr3:36856234 [GRCh38] Chr3:36897725 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.1619C>T (p.Thr540Met) | single nucleotide variant | not specified [RCV004180418] | Chr3:36858771 [GRCh38] Chr3:36900262 [GRCh37] Chr3:3p22.2 |
likely benign |
NM_001329998.2(TRANK1):c.4336G>A (p.Glu1446Lys) | single nucleotide variant | not specified [RCV004074496] | Chr3:36855386 [GRCh38] Chr3:36896877 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.1805G>T (p.Gly602Val) | single nucleotide variant | not specified [RCV004094313] | Chr3:36857917 [GRCh38] Chr3:36899408 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.8195T>C (p.Leu2732Pro) | single nucleotide variant | not specified [RCV004077781] | Chr3:36831388 [GRCh38] Chr3:36872879 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.7981C>T (p.Arg2661Cys) | single nucleotide variant | not specified [RCV004105555] | Chr3:36831602 [GRCh38] Chr3:36873093 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.7129G>A (p.Gly2377Ser) | single nucleotide variant | not specified [RCV004174115] | Chr3:36832454 [GRCh38] Chr3:36873945 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.885C>G (p.His295Gln) | single nucleotide variant | not specified [RCV004311960] | Chr3:36889851 [GRCh38] Chr3:36931342 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.5443A>G (p.Thr1815Ala) | single nucleotide variant | not specified [RCV004314852] | Chr3:36838446 [GRCh38] Chr3:36879937 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2762C>T (p.Thr921Met) | single nucleotide variant | not specified [RCV004262647] | Chr3:36856960 [GRCh38] Chr3:36898451 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.8001G>C (p.Glu2667Asp) | single nucleotide variant | not specified [RCV004263208] | Chr3:36831582 [GRCh38] Chr3:36873073 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.6671C>T (p.Ser2224Leu) | single nucleotide variant | not specified [RCV004273800] | Chr3:36832912 [GRCh38] Chr3:36874403 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.535A>G (p.Lys179Glu) | single nucleotide variant | not specified [RCV004268762] | Chr3:36895657 [GRCh38] Chr3:36937148 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.4166G>A (p.Ser1389Asn) | single nucleotide variant | not specified [RCV004267688] | Chr3:36855556 [GRCh38] Chr3:36897047 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.490G>A (p.Gly164Arg) | single nucleotide variant | not specified [RCV004262809] | Chr3:36895702 [GRCh38] Chr3:36937193 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.7522C>A (p.Gln2508Lys) | single nucleotide variant | not specified [RCV004272807] | Chr3:36832061 [GRCh38] Chr3:36873552 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.4162C>T (p.Arg1388Trp) | single nucleotide variant | not specified [RCV004251534] | Chr3:36855560 [GRCh38] Chr3:36897051 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.1817G>A (p.Arg606His) | single nucleotide variant | not specified [RCV004262705] | Chr3:36857905 [GRCh38] Chr3:36899396 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.1604G>A (p.Arg535His) | single nucleotide variant | not specified [RCV004278965] | Chr3:36858786 [GRCh38] Chr3:36900277 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.4615C>T (p.Arg1539Cys) | single nucleotide variant | not specified [RCV004276541] | Chr3:36852280 [GRCh38] Chr3:36893771 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.6782T>C (p.Met2261Thr) | single nucleotide variant | not specified [RCV004251057] | Chr3:36832801 [GRCh38] Chr3:36874292 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.7222C>T (p.Arg2408Trp) | single nucleotide variant | not specified [RCV004330715] | Chr3:36832361 [GRCh38] Chr3:36873852 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.8014C>T (p.Arg2672Cys) | single nucleotide variant | not specified [RCV004280440] | Chr3:36831569 [GRCh38] Chr3:36873060 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.5044G>A (p.Gly1682Arg) | single nucleotide variant | not specified [RCV004257381] | Chr3:36846395 [GRCh38] Chr3:36887886 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2468A>G (p.Glu823Gly) | single nucleotide variant | not specified [RCV004275417] | Chr3:36857254 [GRCh38] Chr3:36898745 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.6961C>T (p.Arg2321Cys) | single nucleotide variant | not specified [RCV004251620] | Chr3:36832622 [GRCh38] Chr3:36874113 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.1204G>A (p.Val402Ile) | single nucleotide variant | not specified [RCV004268112] | Chr3:36864355 [GRCh38] Chr3:36905846 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.8445C>G (p.Ser2815Arg) | single nucleotide variant | not specified [RCV004267124] | Chr3:36831138 [GRCh38] Chr3:36872629 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.3608A>G (p.Gln1203Arg) | single nucleotide variant | not specified [RCV004327442] | Chr3:36856114 [GRCh38] Chr3:36897605 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.1764C>G (p.Asp588Glu) | single nucleotide variant | not specified [RCV004324244] | Chr3:36857958 [GRCh38] Chr3:36899449 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.8748C>G (p.Ile2916Met) | single nucleotide variant | not specified [RCV004326264] | Chr3:36829625 [GRCh38] Chr3:36871116 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.6697G>A (p.Gly2233Arg) | single nucleotide variant | not specified [RCV004299882] | Chr3:36832886 [GRCh38] Chr3:36874377 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.1088A>G (p.Asn363Ser) | single nucleotide variant | Autism [RCV003328501] | Chr3:36864471 [GRCh38] Chr3:36905962 [GRCh37] Chr3:3p22.2 |
likely benign |
NM_001329998.2(TRANK1):c.818A>G (p.Glu273Gly) | single nucleotide variant | Autism [RCV003328508] | Chr3:36889918 [GRCh38] Chr3:36931409 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.4444C>T (p.Arg1482Cys) | single nucleotide variant | not specified [RCV004337793] | Chr3:36855278 [GRCh38] Chr3:36896769 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.3533T>C (p.Val1178Ala) | single nucleotide variant | not specified [RCV004346651] | Chr3:36856189 [GRCh38] Chr3:36897680 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.3100A>G (p.Thr1034Ala) | single nucleotide variant | not specified [RCV004351908] | Chr3:36856622 [GRCh38] Chr3:36898113 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.8032C>G (p.Pro2678Ala) | single nucleotide variant | not specified [RCV004346415] | Chr3:36831551 [GRCh38] Chr3:36873042 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.8881C>G (p.Arg2961Gly) | single nucleotide variant | not specified [RCV004352571] | Chr3:36828304 [GRCh38] Chr3:36869795 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.229G>A (p.Glu77Lys) | single nucleotide variant | not specified [RCV004340702] | Chr3:36903202 [GRCh38] Chr3:36944693 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.6935A>T (p.His2312Leu) | single nucleotide variant | not specified [RCV004346850] | Chr3:36832648 [GRCh38] Chr3:36874139 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.4774G>A (p.Ala1592Thr) | single nucleotide variant | not specified [RCV004354323] | Chr3:36851832 [GRCh38] Chr3:36893323 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.6643C>T (p.Arg2215Cys) | single nucleotide variant | not specified [RCV004365272] | Chr3:36832940 [GRCh38] Chr3:36874431 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.5950G>A (p.Asp1984Asn) | single nucleotide variant | not specified [RCV004364022] | Chr3:36833633 [GRCh38] Chr3:36875124 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.6764A>G (p.Tyr2255Cys) | single nucleotide variant | not specified [RCV004341182] | Chr3:36832819 [GRCh38] Chr3:36874310 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.6500C>A (p.Ala2167Asp) | single nucleotide variant | not specified [RCV004338721] | Chr3:36833083 [GRCh38] Chr3:36874574 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.4668G>A (p.Glu1556=) | single nucleotide variant | not provided [RCV003437750] | Chr3:36852227 [GRCh38] Chr3:36893718 [GRCh37] Chr3:3p22.2 |
likely benign |
NM_001329998.2(TRANK1):c.3726G>A (p.Leu1242=) | single nucleotide variant | not provided [RCV003433514] | Chr3:36855996 [GRCh38] Chr3:36897487 [GRCh37] Chr3:3p22.2 |
likely benign |
NM_001329998.2(TRANK1):c.7569G>C (p.Arg2523=) | single nucleotide variant | not provided [RCV003433513] | Chr3:36832014 [GRCh38] Chr3:36873505 [GRCh37] Chr3:3p22.2 |
likely benign |
NM_001329998.2(TRANK1):c.855C>T (p.Gly285=) | single nucleotide variant | not provided [RCV003437751] | Chr3:36889881 [GRCh38] Chr3:36931372 [GRCh37] Chr3:3p22.2 |
likely benign |
GRCh37/hg19 3p22.3-22.2(chr3:35970901-37455657)x3 | copy number gain | not specified [RCV003986423] | Chr3:35970901..37455657 [GRCh37] Chr3:3p22.3-22.2 |
uncertain significance |
GRCh37/hg19 3p22.3-22.2(chr3:35969734-37443324)x3 | copy number gain | not specified [RCV003986476] | Chr3:35969734..37443324 [GRCh37] Chr3:3p22.3-22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.6789C>G (p.Gly2263=) | single nucleotide variant | not provided [RCV003885650] | Chr3:36832794 [GRCh38] Chr3:36874285 [GRCh37] Chr3:3p22.2 |
likely benign |
NM_001329998.2(TRANK1):c.2290G>A (p.Ala764Thr) | single nucleotide variant | not specified [RCV004471217] | Chr3:36857432 [GRCh38] Chr3:36898923 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2713A>G (p.Ile905Val) | single nucleotide variant | not specified [RCV004471222] | Chr3:36857009 [GRCh38] Chr3:36898500 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.4255C>T (p.Arg1419Trp) | single nucleotide variant | not specified [RCV004471230] | Chr3:36855467 [GRCh38] Chr3:36896958 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.6962G>C (p.Arg2321Pro) | single nucleotide variant | not specified [RCV004471246] | Chr3:36832621 [GRCh38] Chr3:36874112 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.938G>A (p.Arg313His) | single nucleotide variant | not specified [RCV004471257] | Chr3:36874266 [GRCh38] Chr3:36915757 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.8255G>C (p.Arg2752Thr) | single nucleotide variant | not specified [RCV004471258] | Chr3:36831328 [GRCh38] Chr3:36872819 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.8890G>C (p.Gly2964Arg) | single nucleotide variant | not specified [RCV004471261] | Chr3:36828295 [GRCh38] Chr3:36869786 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.1114G>A (p.Asp372Asn) | single nucleotide variant | not specified [RCV004471262] | Chr3:36864445 [GRCh38] Chr3:36905936 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.1219C>T (p.Arg407Cys) | single nucleotide variant | not specified [RCV004471207] | Chr3:36864340 [GRCh38] Chr3:36905831 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.1349G>A (p.Arg450His) | single nucleotide variant | not specified [RCV004471208] | Chr3:36861052 [GRCh38] Chr3:36902543 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.1985C>T (p.Ala662Val) | single nucleotide variant | not specified [RCV004471212] | Chr3:36857737 [GRCh38] Chr3:36899228 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2417G>A (p.Arg806Lys) | single nucleotide variant | not specified [RCV004471219] | Chr3:36857305 [GRCh38] Chr3:36898796 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2633G>T (p.Arg878Leu) | single nucleotide variant | not specified [RCV004471220] | Chr3:36857089 [GRCh38] Chr3:36898580 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2654G>A (p.Ser885Asn) | single nucleotide variant | not specified [RCV004471221] | Chr3:36857068 [GRCh38] Chr3:36898559 [GRCh37] Chr3:3p22.2 |
likely benign |
NM_001329998.2(TRANK1):c.2863A>T (p.Ile955Phe) | single nucleotide variant | not specified [RCV004471224] | Chr3:36856859 [GRCh38] Chr3:36898350 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.3110C>G (p.Ala1037Gly) | single nucleotide variant | not specified [RCV004471225] | Chr3:36856612 [GRCh38] Chr3:36898103 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.4315A>T (p.Ile1439Phe) | single nucleotide variant | not specified [RCV004471231] | Chr3:36855407 [GRCh38] Chr3:36896898 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.4711A>G (p.Lys1571Glu) | single nucleotide variant | not specified [RCV004471235] | Chr3:36852184 [GRCh38] Chr3:36893675 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.4930T>A (p.Ser1644Thr) | single nucleotide variant | not specified [RCV004471236] | Chr3:36847304 [GRCh38] Chr3:36888795 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.643G>A (p.Val215Ile) | single nucleotide variant | not specified [RCV004471237] | Chr3:36892334 [GRCh38] Chr3:36933825 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.5566G>A (p.Ala1856Thr) | single nucleotide variant | not specified [RCV004471240] | Chr3:36834859 [GRCh38] Chr3:36876350 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2155G>A (p.Glu719Lys) | single nucleotide variant | not specified [RCV004471214] | Chr3:36857567 [GRCh38] Chr3:36899058 [GRCh37] Chr3:3p22.2 |
likely benign |
NM_001329998.2(TRANK1):c.2410G>T (p.Asp804Tyr) | single nucleotide variant | not specified [RCV004471218] | Chr3:36857312 [GRCh38] Chr3:36898803 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.3414C>G (p.Asp1138Glu) | single nucleotide variant | not specified [RCV004471227] | Chr3:36856308 [GRCh38] Chr3:36897799 [GRCh37] Chr3:3p22.2 |
likely benign |
NM_001329998.2(TRANK1):c.4486C>G (p.Gln1496Glu) | single nucleotide variant | not specified [RCV004471232] | Chr3:36855236 [GRCh38] Chr3:36896727 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.7031C>T (p.Pro2344Leu) | single nucleotide variant | not specified [RCV004471248] | Chr3:36832552 [GRCh38] Chr3:36874043 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.7877C>G (p.Ser2626Cys) | single nucleotide variant | not specified [RCV004471254] | Chr3:36831706 [GRCh38] Chr3:36873197 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.7760G>A (p.Arg2587His) | single nucleotide variant | not specified [RCV004471251] | Chr3:36831823 [GRCh38] Chr3:36873314 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.1394A>C (p.Asp465Ala) | single nucleotide variant | not specified [RCV004471209] | Chr3:36861007 [GRCh38] Chr3:36902498 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.1444A>C (p.Thr482Pro) | single nucleotide variant | not specified [RCV004471210] | Chr3:36860957 [GRCh38] Chr3:36902448 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2177G>A (p.Cys726Tyr) | single nucleotide variant | not specified [RCV004471215] | Chr3:36857545 [GRCh38] Chr3:36899036 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2270C>G (p.Ser757Cys) | single nucleotide variant | not specified [RCV004471216] | Chr3:36857452 [GRCh38] Chr3:36898943 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.2797C>T (p.Arg933Trp) | single nucleotide variant | not specified [RCV004471223] | Chr3:36856925 [GRCh38] Chr3:36898416 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.3370G>A (p.Gly1124Arg) | single nucleotide variant | not specified [RCV004471226] | Chr3:36856352 [GRCh38] Chr3:36897843 [GRCh37] Chr3:3p22.2 |
likely benign |
NM_001329998.2(TRANK1):c.3948C>A (p.Asp1316Glu) | single nucleotide variant | not specified [RCV004471228] | Chr3:36855774 [GRCh38] Chr3:36897265 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.4223T>C (p.Phe1408Ser) | single nucleotide variant | not specified [RCV004471229] | Chr3:36855499 [GRCh38] Chr3:36896990 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.4616G>A (p.Arg1539His) | single nucleotide variant | not specified [RCV004471233] | Chr3:36852279 [GRCh38] Chr3:36893770 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.4676G>A (p.Ser1559Asn) | single nucleotide variant | not specified [RCV004471234] | Chr3:36852219 [GRCh38] Chr3:36893710 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.5546G>A (p.Arg1849Gln) | single nucleotide variant | not specified [RCV004471238] | Chr3:36834879 [GRCh38] Chr3:36876370 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.5554T>C (p.Cys1852Arg) | single nucleotide variant | not specified [RCV004471239] | Chr3:36834871 [GRCh38] Chr3:36876362 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.5837G>A (p.Arg1946Gln) | single nucleotide variant | not specified [RCV004471241] | Chr3:36833746 [GRCh38] Chr3:36875237 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.6004A>G (p.Arg2002Gly) | single nucleotide variant | not specified [RCV004471242] | Chr3:36833579 [GRCh38] Chr3:36875070 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.6260G>T (p.Gly2087Val) | single nucleotide variant | not specified [RCV004471243] | Chr3:36833323 [GRCh38] Chr3:36874814 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.6901C>T (p.Arg2301Trp) | single nucleotide variant | not specified [RCV004471245] | Chr3:36832682 [GRCh38] Chr3:36874173 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.7361C>A (p.Ala2454Asp) | single nucleotide variant | not specified [RCV004471249] | Chr3:36832222 [GRCh38] Chr3:36873713 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.7850G>A (p.Arg2617Gln) | single nucleotide variant | not specified [RCV004471253] | Chr3:36831733 [GRCh38] Chr3:36873224 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.8162G>A (p.Arg2721Gln) | single nucleotide variant | not specified [RCV004471256] | Chr3:36831421 [GRCh38] Chr3:36872912 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.968G>A (p.Arg323Gln) | single nucleotide variant | not specified [RCV004471259] | Chr3:36874236 [GRCh38] Chr3:36915727 [GRCh37] Chr3:3p22.2 |
uncertain significance |
NM_001329998.2(TRANK1):c.8737A>C (p.Asn2913His) | single nucleotide variant | not specified [RCV004471260] | Chr3:36829636 [GRCh38] Chr3:36871127 [GRCh37] Chr3:3p22.2 |
uncertain significance |
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. |
STS-AA026362 |
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G54052 |
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RH119458 |
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D3S3189 |
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D3S4036 |
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D3S3436 |
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D3S3430 |
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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 | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 1470 | 1333 | 711 | 49 | 1246 | 43 | 920 | 559 | 1642 | 70 | 821 | 937 | 8 | 484 | 628 | 1 | ||
Low | 952 | 1632 | 1008 | 571 | 692 | 418 | 3161 | 1344 | 2046 | 338 | 623 | 647 | 166 | 1 | 720 | 1893 | 2 | 2 |
Below cutoff | 15 | 24 | 7 | 4 | 12 | 4 | 274 | 291 | 46 | 11 | 13 | 22 | 267 | 2 |
RefSeq Transcripts | NM_001329998 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_014831 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011534289 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017007570 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017007571 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017007572 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017007573 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047449325 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047449326 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047449327 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047449328 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047449329 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047449330 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047449331 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047449332 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054348588 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054348589 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054348590 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054348591 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054348592 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054348593 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054348594 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054348595 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001740389 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001740390 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_008486871 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_008486872 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB002340 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC011816 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC097360 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC105749 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK096678 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG750754 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG960452 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ024165 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX956692 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CD698859 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CN313593 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CN482191 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068275 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EG328357 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EG328358 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HF583966 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF457622 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF457629 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000429976 ⟹ ENSP00000416168 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000463764 ⟹ ENSP00000485569 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000463984 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000643881 ⟹ ENSP00000496256 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000645898 ⟹ ENSP00000494480 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000646436 ⟹ ENSP00000496740 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000646897 ⟹ ENSP00000496771 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001329998 ⟹ NP_001316927 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_014831 ⟹ NP_055646 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
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Sequence: |
RefSeq Acc Id: | XM_011534289 ⟹ XP_011532591 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017007570 ⟹ XP_016863059 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017007573 ⟹ XP_016863062 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047449325 ⟹ XP_047305281 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047449326 ⟹ XP_047305282 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047449327 ⟹ XP_047305283 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047449328 ⟹ XP_047305284 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047449329 ⟹ XP_047305285 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047449330 ⟹ XP_047305286 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047449331 ⟹ XP_047305287 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047449332 ⟹ XP_047305288 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054348588 ⟹ XP_054204563 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054348589 ⟹ XP_054204564 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054348590 ⟹ XP_054204565 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054348591 ⟹ XP_054204566 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054348592 ⟹ XP_054204567 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054348593 ⟹ XP_054204568 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054348594 ⟹ XP_054204569 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054348595 ⟹ XP_054204570 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008486871 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008486872 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001316927 | (Get FASTA) | NCBI Sequence Viewer |
NP_055646 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011532591 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016863059 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016863062 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047305281 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047305282 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047305283 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047305284 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047305285 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047305286 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047305287 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047305288 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054204563 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054204564 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054204565 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054204566 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054204567 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054204568 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054204569 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054204570 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | BAA20800 | (Get FASTA) | NCBI Sequence Viewer |
BAC04838 | (Get FASTA) | NCBI Sequence Viewer | |
CCQ43463 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000416168 | ||
ENSP00000416168.2 | |||
ENSP00000485569.1 | |||
ENSP00000494480 | |||
ENSP00000494480.1 | |||
ENSP00000496256.1 | |||
ENSP00000496740.1 | |||
ENSP00000496771 | |||
ENSP00000496771.1 | |||
GenBank Protein | O15050 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_055646 ⟸ NM_014831 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q8N8K0 (UniProtKB/Swiss-Prot), O15050 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011532591 ⟸ XM_011534289 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_016863059 ⟸ XM_017007570 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_016863062 ⟸ XM_017007573 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A2R8Y8A3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001316927 ⟸ NM_001329998 |
- Peptide Label: | isoform 1 |
- UniProtKB: | A0A2R8YEM9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000485569 ⟸ ENST00000463764 |
RefSeq Acc Id: | ENSP00000416168 ⟸ ENST00000429976 |
RefSeq Acc Id: | ENSP00000496256 ⟸ ENST00000643881 |
RefSeq Acc Id: | ENSP00000494480 ⟸ ENST00000645898 |
RefSeq Acc Id: | ENSP00000496740 ⟸ ENST00000646436 |
RefSeq Acc Id: | ENSP00000496771 ⟸ ENST00000646897 |
RefSeq Acc Id: | XP_047305284 ⟸ XM_047449328 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_047305282 ⟸ XM_047449326 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_047305281 ⟸ XM_047449325 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_047305283 ⟸ XM_047449327 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_047305285 ⟸ XM_047449329 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_047305286 ⟸ XM_047449330 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_047305287 ⟸ XM_047449331 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_047305288 ⟸ XM_047449332 |
- Peptide Label: | isoform X9 |
RefSeq Acc Id: | XP_054204567 ⟸ XM_054348592 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054204568 ⟸ XM_054348593 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054204565 ⟸ XM_054348590 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054204564 ⟸ XM_054348589 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054204563 ⟸ XM_054348588 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054204566 ⟸ XM_054348591 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054204569 ⟸ XM_054348594 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_054204570 ⟸ XM_054348595 |
- Peptide Label: | isoform X7 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O15050-F1-model_v2 | AlphaFold | O15050 | 1-1400 | view protein structure |
AF-O15050-F2-model_v2 | AlphaFold | O15050 | 201-1600 | view protein structure |
AF-O15050-F3-model_v2 | AlphaFold | O15050 | 401-1800 | view protein structure |
AF-O15050-F4-model_v2 | AlphaFold | O15050 | 601-2000 | view protein structure |
AF-O15050-F5-model_v2 | AlphaFold | O15050 | 801-2200 | view protein structure |
AF-O15050-F6-model_v2 | AlphaFold | O15050 | 1001-2400 | view protein structure |
AF-O15050-F7-model_v2 | AlphaFold | O15050 | 1201-2600 | view protein structure |
AF-O15050-F8-model_v2 | AlphaFold | O15050 | 1401-2800 | view protein structure |
AF-O15050-F9-model_v2 | AlphaFold | O15050 | 1601-2925 | view protein structure |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:29011 | AgrOrtholog |
COSMIC | TRANK1 | COSMIC |
Ensembl Genes | ENSG00000168016 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000429976 | ENTREZGENE |
ENST00000429976.5 | UniProtKB/Swiss-Prot | |
ENST00000463764.2 | UniProtKB/TrEMBL | |
ENST00000643881.1 | UniProtKB/TrEMBL | |
ENST00000645898 | ENTREZGENE | |
ENST00000645898.2 | UniProtKB/TrEMBL | |
ENST00000646436.1 | UniProtKB/TrEMBL | |
ENST00000646897 | ENTREZGENE | |
ENST00000646897.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.25.40.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
1.25.40.20 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
3.40.50.300 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000168016 | GTEx |
HGNC ID | HGNC:29011 | ENTREZGENE |
Human Proteome Map | TRANK1 | Human Proteome Map |
InterPro | Ankyrin_rpt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ankyrin_rpt-contain_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
P-loop_NTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TPR-like_helical_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TPR_repeat | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TRANK1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:9881 | UniProtKB/Swiss-Prot |
NCBI Gene | 9881 | ENTREZGENE |
OMIM | 619316 | OMIM |
PANTHER | PTHR21529 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR22904 | UniProtKB/TrEMBL | |
STRESS-INDUCED-PHOSPHOPROTEIN 1 | UniProtKB/TrEMBL | |
TPR AND ANKYRIN REPEAT-CONTAINING PROTEIN 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA165698606 | PharmGKB |
PROSITE | ANK_REP_REGION | UniProtKB/Swiss-Prot |
TPR_REGION | UniProtKB/Swiss-Prot | |
SMART | ANK | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TPR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF48403 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF48452 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF52540 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A096LPF5_HUMAN | UniProtKB/TrEMBL |
A0A2R8Y7N6_HUMAN | UniProtKB/TrEMBL | |
A0A2R8Y890_HUMAN | UniProtKB/TrEMBL | |
A0A2R8Y8A3 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A2R8YEM9 | ENTREZGENE, UniProtKB/TrEMBL | |
L8EAQ6_HUMAN | UniProtKB/TrEMBL | |
O15050 | ENTREZGENE | |
Q8N8K0 | ENTREZGENE | |
TRNK1_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | Q8N8K0 | UniProtKB/Swiss-Prot |