Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | glucose intolerance | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:17179392 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | glucose intolerance | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:17179392 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:7510261 | PMID:7664264 | PMID:7696183 | PMID:8099900 | PMID:10229084 | PMID:12477932 | PMID:12569567 | PMID:12725532 | PMID:12750000 | PMID:12837246 | PMID:15082191 | PMID:15489334 |
PMID:15951569 | PMID:19056867 | PMID:19345329 | PMID:20686565 | PMID:20800603 | PMID:21074287 | PMID:21516116 | PMID:21665990 | PMID:21873635 | PMID:22745667 | PMID:22790444 | PMID:22939624 |
PMID:23263486 | PMID:23267173 | PMID:23318459 | PMID:23376485 | PMID:23455922 | PMID:23533145 | PMID:24097068 | PMID:24658140 | PMID:24735922 | PMID:24792491 | PMID:24969324 | PMID:25402006 |
PMID:25416956 | PMID:25783528 | PMID:26186194 | PMID:27665472 | PMID:28077797 | PMID:28514442 | PMID:29026208 | PMID:29568343 | PMID:31251822 | PMID:31395336 | PMID:31515488 | PMID:31681835 |
PMID:31883420 | PMID:31894485 | PMID:31907296 | PMID:31996378 | PMID:32296183 | PMID:32707033 | PMID:33277858 | PMID:33961781 | PMID:34857952 | PMID:35723276 | PMID:36070195 | PMID:36736316 |
FRK (Homo sapiens - human) |
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Frk (Mus musculus - house mouse) |
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Frk (Rattus norvegicus - Norway rat) |
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Frk (Chinchilla lanigera - long-tailed chinchilla) |
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FRK (Pan paniscus - bonobo/pygmy chimpanzee) |
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FRK (Canis lupus familiaris - dog) |
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Frk (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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FRK (Sus scrofa - pig) |
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FRK (Chlorocebus sabaeus - green monkey) |
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Frk (Heterocephalus glaber - naked mole-rat) |
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Variants in FRK
44 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 | copy number loss | See cases [RCV000051196] | Chr6:108944899..132067720 [GRCh38] Chr6:109266102..132388860 [GRCh37] Chr6:109372795..132430553 [NCBI36] Chr6:6q21-23.2 |
pathogenic |
GRCh38/hg38 6q22.1(chr6:115220054-117196371)x1 | copy number loss | See cases [RCV000052195] | Chr6:115220054..117196371 [GRCh38] Chr6:115541218..117517534 [GRCh37] Chr6:115647911..117624227 [NCBI36] Chr6:6q22.1 |
pathogenic |
GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1 | copy number loss | See cases [RCV000052196] | Chr6:115601230..128514324 [GRCh38] Chr6:115922394..128835469 [GRCh37] Chr6:116029087..128877162 [NCBI36] Chr6:6q22.1-22.33 |
pathogenic |
GRCh38/hg38 6q22.1(chr6:115532759-116166844)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053367]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053367]|See cases [RCV000053367] | Chr6:115532759..116166844 [GRCh38] Chr6:115853923..116488007 [GRCh37] Chr6:115960616..116594700 [NCBI36] Chr6:6q22.1 |
uncertain significance |
GRCh38/hg38 6q22.1(chr6:115890731-116427566)x3 | copy number gain | See cases [RCV000053368] | Chr6:115890731..116427566 [GRCh38] Chr6:116211895..116748729 [GRCh37] Chr6:116318588..116855422 [NCBI36] Chr6:6q22.1 |
uncertain significance |
NM_002031.2(FRK):c.63G>A (p.Thr21=) | single nucleotide variant | Malignant melanoma [RCV000067080] | Chr6:116060249 [GRCh38] Chr6:116381412 [GRCh37] Chr6:116488105 [NCBI36] Chr6:6q22.1 |
not provided |
NM_002031.3(FRK):c.484G>A (p.Val162Ile) | single nucleotide variant | Hemifacial microsomia [RCV001507328] | Chr6:115968722 [GRCh38] Chr6:116289885 [GRCh37] Chr6:6q22.1 |
likely pathogenic|uncertain significance |
GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1 | copy number loss | See cases [RCV000135623] | Chr6:115326962..117935240 [GRCh38] Chr6:115648126..118256403 [GRCh37] Chr6:115754819..118363096 [NCBI36] Chr6:6q22.1-22.2 |
likely pathogenic |
GRCh38/hg38 6q21-22.1(chr6:113997278-116053529)x1 | copy number loss | See cases [RCV000138778] | Chr6:113997278..116053529 [GRCh38] Chr6:114318442..116374692 [GRCh37] Chr6:114425135..116481385 [NCBI36] Chr6:6q21-22.1 |
uncertain significance |
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 | copy number gain | See cases [RCV000139729] | Chr6:74382807..142040500 [GRCh38] Chr6:75092523..142361637 [GRCh37] Chr6:75149243..142403330 [NCBI36] Chr6:6q13-24.1 |
pathogenic |
GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 | copy number loss | See cases [RCV000139465] | Chr6:96609994..122161548 [GRCh38] Chr6:97057870..122482694 [GRCh37] Chr6:97164591..122524393 [NCBI36] Chr6:6q16.1-22.31 |
pathogenic |
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 | copy number loss | See cases [RCV000141587] | Chr6:106503719..125781219 [GRCh38] Chr6:106951594..126102365 [GRCh37] Chr6:107058287..126144058 [NCBI36] Chr6:6q21-22.31 |
pathogenic |
GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 | copy number loss | See cases [RCV000143227] | Chr6:100054889..120488154 [GRCh38] Chr6:100502765..120809300 [GRCh37] Chr6:100609486..120850999 [NCBI36] Chr6:6q16.3-22.31 |
pathogenic |
NC_000006.11:g.(112511751_112511752)_(118037595_118037596)del | deletion | Dysmorphic features [RCV000157073] | Chr6:112511752..118037595 [GRCh37] Chr6:6q21-22.1 |
pathogenic |
GRCh37/hg19 6q21-22.1(chr6:114318401-116957002)x3 | copy number gain | not provided [RCV000487884] | Chr6:114318401..116957002 [GRCh37] Chr6:6q21-22.1 |
uncertain significance |
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 | copy number loss | See cases [RCV000445666] | Chr6:85988428..120548687 [GRCh37] Chr6:6q14.3-22.31 |
pathogenic |
GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1 | copy number loss | 6q21-6q22.1 deletion [RCV000416567] | Chr6:112069445..120994664 [GRCh37] Chr6:6q21-22.31 |
likely pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 | copy number gain | See cases [RCV000512067] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) | copy number gain | See cases [RCV000510595] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6q22.1(chr6:115063620-116290736)x1 | copy number loss | See cases [RCV000511633] | Chr6:115063620..116290736 [GRCh37] Chr6:6q22.1 |
uncertain significance |
GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1 | copy number loss | Poly (ADP-Ribose) polymerase inhibitor response [RCV000626432] | Chr6:112939290..132327952 [GRCh37] Chr6:6q21-23.2 |
drug response |
NM_002031.3(FRK):c.412G>A (p.Gly138Ser) | single nucleotide variant | not specified [RCV004301301] | Chr6:116003931 [GRCh38] Chr6:116325094 [GRCh37] Chr6:6q22.1 |
uncertain significance |
GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1 | copy number loss | not provided [RCV000682693] | Chr6:95549951..116684929 [GRCh37] Chr6:6q16.1-22.1 |
pathogenic |
GRCh37/hg19 6q21-22.1(chr6:113261042-117842826)x1 | copy number loss | not provided [RCV000682711] | Chr6:113261042..117842826 [GRCh37] Chr6:6q21-22.1 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 | copy number gain | not provided [RCV000745403] | Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 | copy number gain | not provided [RCV000745400] | Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 | copy number gain | not provided [RCV000745404] | Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6q22.1(chr6:116169307-116394580)x1 | copy number loss | not provided [RCV000745990] | Chr6:116169307..116394580 [GRCh37] Chr6:6q22.1 |
benign |
NM_002031.3(FRK):c.126G>T (p.Arg42Ser) | single nucleotide variant | not specified [RCV004286488] | Chr6:116060186 [GRCh38] Chr6:116381349 [GRCh37] Chr6:6q22.1 |
uncertain significance |
NM_002031.3(FRK):c.427A>G (p.Arg143Gly) | single nucleotide variant | not specified [RCV004292407] | Chr6:116003916 [GRCh38] Chr6:116325079 [GRCh37] Chr6:6q22.1 |
uncertain significance |
GRCh37/hg19 6q22.1(chr6:116371057-116515290)x3 | copy number gain | not provided [RCV000848084] | Chr6:116371057..116515290 [GRCh37] Chr6:6q22.1 |
uncertain significance |
GRCh37/hg19 6q22.1(chr6:116157519-116398154)x1 | copy number loss | not provided [RCV000847117] | Chr6:116157519..116398154 [GRCh37] Chr6:6q22.1 |
uncertain significance |
GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1 | copy number loss | not provided [RCV000848701] | Chr6:110981075..119608396 [GRCh37] Chr6:6q21-22.31 |
pathogenic |
GRCh37/hg19 6q22.1(chr6:116299848-116395768)x1 | copy number loss | not provided [RCV001005843] | Chr6:116299848..116395768 [GRCh37] Chr6:6q22.1 |
likely benign |
NM_002031.3(FRK):c.1280T>C (p.Ile427Thr) | single nucleotide variant | not specified [RCV004293898] | Chr6:115943046 [GRCh38] Chr6:116264209 [GRCh37] Chr6:6q22.1 |
uncertain significance |
GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3 | copy number gain | Microcephaly [RCV001251053] | Chr6:101296547..117004249 [GRCh37] Chr6:6q16.3-22.1 |
pathogenic |
Single allele | deletion | Interstitial 6q microdeletion syndrome [RCV002280353] | Chr6:115941808..133892653 [GRCh38] Chr6:6q22.1-23.2 |
pathogenic |
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687) | copy number loss | not specified [RCV002053595] | Chr6:85988428..120548687 [GRCh37] Chr6:6q14.3-22.31 |
pathogenic |
GRCh37/hg19 6q22.1-22.31(chr6:116212698-119482708) | copy number loss | not specified [RCV002053610] | Chr6:116212698..119482708 [GRCh37] Chr6:6q22.1-22.31 |
pathogenic|uncertain significance |
GRCh37/hg19 6q15-22.2(chr6:92054891-118329651) | copy number loss | not specified [RCV002053598] | Chr6:92054891..118329651 [GRCh37] Chr6:6q15-22.2 |
pathogenic |
NM_002031.3(FRK):c.970T>C (p.Ser324Pro) | single nucleotide variant | not specified [RCV004144113] | Chr6:115944414 [GRCh38] Chr6:116265577 [GRCh37] Chr6:6q22.1 |
uncertain significance |
NM_002031.3(FRK):c.1223A>G (p.Asn408Ser) | single nucleotide variant | not specified [RCV004107376] | Chr6:115943103 [GRCh38] Chr6:116264266 [GRCh37] Chr6:6q22.1 |
uncertain significance |
NM_002031.3(FRK):c.481G>A (p.Val161Ile) | single nucleotide variant | not specified [RCV004195944] | Chr6:115968725 [GRCh38] Chr6:116289888 [GRCh37] Chr6:6q22.1 |
uncertain significance |
NM_002031.3(FRK):c.409A>T (p.Thr137Ser) | single nucleotide variant | not specified [RCV004125325] | Chr6:116003934 [GRCh38] Chr6:116325097 [GRCh37] Chr6:6q22.1 |
uncertain significance |
NM_002031.3(FRK):c.1054C>A (p.His352Asn) | single nucleotide variant | not specified [RCV004198739] | Chr6:115944330 [GRCh38] Chr6:116265493 [GRCh37] Chr6:6q22.1 |
uncertain significance |
NM_002031.3(FRK):c.62C>T (p.Thr21Met) | single nucleotide variant | not specified [RCV004188784] | Chr6:116060250 [GRCh38] Chr6:116381413 [GRCh37] Chr6:6q22.1 |
uncertain significance |
NM_002031.3(FRK):c.1486T>C (p.Ser496Pro) | single nucleotide variant | not specified [RCV004103225] | Chr6:115942446 [GRCh38] Chr6:116263609 [GRCh37] Chr6:6q22.1 |
uncertain significance |
NM_002031.3(FRK):c.688G>A (p.Asp230Asn) | single nucleotide variant | not specified [RCV004090899] | Chr6:115967662 [GRCh38] Chr6:116288825 [GRCh37] Chr6:6q22.1 |
uncertain significance |
NM_002031.3(FRK):c.456C>G (p.Phe152Leu) | single nucleotide variant | not specified [RCV004131741] | Chr6:116003887 [GRCh38] Chr6:116325050 [GRCh37] Chr6:6q22.1 |
uncertain significance |
NM_002031.3(FRK):c.416C>T (p.Ser139Phe) | single nucleotide variant | not specified [RCV004257405] | Chr6:116003927 [GRCh38] Chr6:116325090 [GRCh37] Chr6:6q22.1 |
uncertain significance |
NM_002031.3(FRK):c.215T>C (p.Leu72Pro) | single nucleotide variant | not specified [RCV004279197] | Chr6:116060097 [GRCh38] Chr6:116381260 [GRCh37] Chr6:6q22.1 |
uncertain significance |
GRCh37/hg19 6q21-22.31(chr6:112713854-124105184) | copy number loss | 6q terminal deletion syndrome [RCV003319582] | Chr6:112713854..124105184 [GRCh37] Chr6:6q21-22.31 |
likely pathogenic |
GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1 | copy number loss | Intellectual disability, autosomal dominant 55, with seizures [RCV003327704] | Chr6:113857248..130442177 [GRCh38] Chr6:6q21-23.1 |
pathogenic |
NM_002031.3(FRK):c.1217G>A (p.Arg406His) | single nucleotide variant | not specified [RCV004339047] | Chr6:115943109 [GRCh38] Chr6:116264272 [GRCh37] Chr6:6q22.1 |
uncertain significance |
NM_002031.3(FRK):c.1253C>G (p.Ser418Ter) | single nucleotide variant | not provided [RCV003487844] | Chr6:115943073 [GRCh38] Chr6:116264236 [GRCh37] Chr6:6q22.1 |
uncertain significance |
GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3 | copy number gain | not specified [RCV003986625] | Chr6:110546061..131896074 [GRCh37] Chr6:6q21-23.2 |
likely pathogenic |
NM_002031.3(FRK):c.478G>T (p.Ala160Ser) | single nucleotide variant | not specified [RCV004394718] | Chr6:115968728 [GRCh38] Chr6:116289891 [GRCh37] Chr6:6q22.1 |
uncertain significance |
NM_002031.3(FRK):c.1207G>A (p.Glu403Lys) | single nucleotide variant | not specified [RCV004394717] | Chr6:115943119 [GRCh38] Chr6:116264282 [GRCh37] Chr6:6q22.1 |
uncertain significance |
NM_002031.3(FRK):c.529C>A (p.Leu177Ile) | single nucleotide variant | not specified [RCV004394719] | Chr6:115968677 [GRCh38] Chr6:116289840 [GRCh37] Chr6:6q22.1 |
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. |
RH67005 |
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D6S1513 |
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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 | entire extraembryonic component | |
High | ||||||||||||||||
Medium | 100 | 372 | 44 | 44 | 31 | 46 | 214 | 4 | 71 | 96 | 77 | 3 | 210 | |||
Low | 1203 | 1677 | 1463 | 573 | 928 | 413 | 3322 | 1142 | 1352 | 336 | 1252 | 1371 | 168 | 769 | 2036 | 4 |
Below cutoff | 1129 | 689 | 214 | 4 | 733 | 4 | 819 | 1046 | 2356 | 11 | 100 | 158 | 435 | 542 |
RefSeq Transcripts | NM_002031 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_005266880 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005266881 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005266882 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011535653 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011535654 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011535655 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011535656 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017010645 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047418554 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047418555 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054354985 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054354986 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054354987 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054354988 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054354989 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054354990 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054354991 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054354992 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AK302264 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK313314 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL021451 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL121963 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL357141 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC012916 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471051 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068272 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KT584880 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U00803 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U22322 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000606080 ⟹ ENSP00000476145 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_002031 ⟹ NP_002022 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005266880 ⟹ XP_005266937 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005266881 ⟹ XP_005266938 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011535654 ⟹ XP_011533956 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011535655 ⟹ XP_011533957 | ||||||||
Type: | CODING | ||||||||
Position: |
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||||||||
Sequence: |
RefSeq Acc Id: | XM_011535656 ⟹ XP_011533958 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017010645 ⟹ XP_016866134 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047418554 ⟹ XP_047274510 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047418555 ⟹ XP_047274511 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054354985 ⟹ XP_054210960 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054354986 ⟹ XP_054210961 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054354987 ⟹ XP_054210962 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054354988 ⟹ XP_054210963 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054354989 ⟹ XP_054210964 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054354990 ⟹ XP_054210965 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054354991 ⟹ XP_054210966 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054354992 ⟹ XP_054210967 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_002022 | (Get FASTA) | NCBI Sequence Viewer |
XP_005266937 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005266938 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011533956 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011533957 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011533958 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016866134 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047274510 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047274511 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054210960 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054210961 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054210962 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054210963 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054210964 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054210965 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054210966 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054210967 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA18284 | (Get FASTA) | NCBI Sequence Viewer |
AAC50116 | (Get FASTA) | NCBI Sequence Viewer | |
AAH12916 | (Get FASTA) | NCBI Sequence Viewer | |
BAG36119 | (Get FASTA) | NCBI Sequence Viewer | |
BAG63611 | (Get FASTA) | NCBI Sequence Viewer | |
EAW48241 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000476145 | ||
ENSP00000476145.1 | |||
GenBank Protein | P42685 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_002022 ⟸ NM_002031 |
- UniProtKB: | Q13128 (UniProtKB/Swiss-Prot), B4DY49 (UniProtKB/Swiss-Prot), Q9NTR5 (UniProtKB/Swiss-Prot), P42685 (UniProtKB/Swiss-Prot), B2R8C2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005266937 ⟸ XM_005266880 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q13128 (UniProtKB/Swiss-Prot), B4DY49 (UniProtKB/Swiss-Prot), Q9NTR5 (UniProtKB/Swiss-Prot), P42685 (UniProtKB/Swiss-Prot), B2R8C2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005266938 ⟸ XM_005266881 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q13128 (UniProtKB/Swiss-Prot), B4DY49 (UniProtKB/Swiss-Prot), Q9NTR5 (UniProtKB/Swiss-Prot), P42685 (UniProtKB/Swiss-Prot), B2R8C2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011533957 ⟸ XM_011535655 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q13128 (UniProtKB/Swiss-Prot), B4DY49 (UniProtKB/Swiss-Prot), Q9NTR5 (UniProtKB/Swiss-Prot), P42685 (UniProtKB/Swiss-Prot), B2R8C2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011533956 ⟸ XM_011535654 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q13128 (UniProtKB/Swiss-Prot), B4DY49 (UniProtKB/Swiss-Prot), Q9NTR5 (UniProtKB/Swiss-Prot), P42685 (UniProtKB/Swiss-Prot), B2R8C2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011533958 ⟸ XM_011535656 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_016866134 ⟸ XM_017010645 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q13128 (UniProtKB/Swiss-Prot), B4DY49 (UniProtKB/Swiss-Prot), Q9NTR5 (UniProtKB/Swiss-Prot), P42685 (UniProtKB/Swiss-Prot), B2R8C2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000476145 ⟸ ENST00000606080 |
RefSeq Acc Id: | XP_047274510 ⟸ XM_047418554 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q13128 (UniProtKB/Swiss-Prot), P42685 (UniProtKB/Swiss-Prot), B4DY49 (UniProtKB/Swiss-Prot), Q9NTR5 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_047274511 ⟸ XM_047418555 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q13128 (UniProtKB/Swiss-Prot), P42685 (UniProtKB/Swiss-Prot), B4DY49 (UniProtKB/Swiss-Prot), Q9NTR5 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054210967 ⟸ XM_054354992 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054210965 ⟸ XM_054354990 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q13128 (UniProtKB/Swiss-Prot), P42685 (UniProtKB/Swiss-Prot), B4DY49 (UniProtKB/Swiss-Prot), Q9NTR5 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054210966 ⟸ XM_054354991 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q13128 (UniProtKB/Swiss-Prot), P42685 (UniProtKB/Swiss-Prot), B4DY49 (UniProtKB/Swiss-Prot), Q9NTR5 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054210961 ⟸ XM_054354986 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q13128 (UniProtKB/Swiss-Prot), P42685 (UniProtKB/Swiss-Prot), B4DY49 (UniProtKB/Swiss-Prot), Q9NTR5 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054210964 ⟸ XM_054354989 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q13128 (UniProtKB/Swiss-Prot), P42685 (UniProtKB/Swiss-Prot), B4DY49 (UniProtKB/Swiss-Prot), Q9NTR5 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054210962 ⟸ XM_054354987 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q13128 (UniProtKB/Swiss-Prot), P42685 (UniProtKB/Swiss-Prot), B4DY49 (UniProtKB/Swiss-Prot), Q9NTR5 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054210960 ⟸ XM_054354985 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q13128 (UniProtKB/Swiss-Prot), P42685 (UniProtKB/Swiss-Prot), B4DY49 (UniProtKB/Swiss-Prot), Q9NTR5 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054210963 ⟸ XM_054354988 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q13128 (UniProtKB/Swiss-Prot), P42685 (UniProtKB/Swiss-Prot), B4DY49 (UniProtKB/Swiss-Prot), Q9NTR5 (UniProtKB/Swiss-Prot) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P42685-F1-model_v2 | AlphaFold | P42685 | 1-505 | view protein structure |
RGD ID: | 7208937 | ||||||||
Promoter ID: | EPDNEW_H10214 | ||||||||
Type: | initiation region | ||||||||
Name: | FRK_2 | ||||||||
Description: | fyn related Src family tyrosine kinase | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H10215 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7208939 | ||||||||
Promoter ID: | EPDNEW_H10215 | ||||||||
Type: | initiation region | ||||||||
Name: | FRK_1 | ||||||||
Description: | fyn related Src family tyrosine kinase | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H10214 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6804248 | ||||||||
Promoter ID: | HG_KWN:54751 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | HeLa_S3, Lymphoblastoid | ||||||||
Transcripts: | NM_002031 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:3955 | AgrOrtholog |
COSMIC | FRK | COSMIC |
Ensembl Genes | ENSG00000111816 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000606080 | ENTREZGENE |
ENST00000606080.2 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.30.505.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SH3 Domains | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Transferase(Phosphotransferase) domain 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000111816 | GTEx |
HGNC ID | HGNC:3955 | ENTREZGENE |
Human Proteome Map | FRK | Human Proteome Map |
InterPro | Kinase-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Prot_kinase_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Protein_kinase_ATP_BS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ser-Thr/Tyr_kinase_cat_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SH2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SH2_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SH2_Frk | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SH3-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SH3_domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Tyr_kinase_AS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Tyr_kinase_cat_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:2444 | UniProtKB/Swiss-Prot |
NCBI Gene | 2444 | ENTREZGENE |
OMIM | 606573 | OMIM |
PANTHER | TYROSINE-PROTEIN KINASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TYROSINE-PROTEIN KINASE FRK | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | PK_Tyr_Ser-Thr | UniProtKB/TrEMBL, UniProtKB/Swiss-Prot |
SH2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SH3_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | FRK | RGD, PharmGKB |
PRINTS | SH2DOMAIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SH3DOMAIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TYRKINASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROSITE | PROTEIN_KINASE_ATP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROTEIN_KINASE_DOM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROTEIN_KINASE_TYR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SH2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SH3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | SH2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SH3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TyrKc | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | Protein kinase-like (PK-like) | UniProtKB/TrEMBL |
SH2 domain | UniProtKB/TrEMBL | |
SH3-domain | UniProtKB/TrEMBL, UniProtKB/Swiss-Prot | |
SSF55550 | UniProtKB/Swiss-Prot | |
SSF56112 | UniProtKB/Swiss-Prot | |
UniProt | B2R8C2 | ENTREZGENE, UniProtKB/TrEMBL |
B4DY49 | ENTREZGENE | |
FRK_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q13128 | ENTREZGENE | |
Q9NTR5 | ENTREZGENE | |
UniProt Secondary | B4DY49 | UniProtKB/Swiss-Prot |
Q13128 | UniProtKB/Swiss-Prot | |
Q9NTR5 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-03-21 | FRK | fyn related Src family tyrosine kinase | FRK | fyn-related Src family tyrosine kinase | Symbol and/or name change | 5135510 | APPROVED |
2014-07-01 | FRK | fyn-related Src family tyrosine kinase | FRK | fyn-related kinase | Symbol and/or name change | 5135510 | APPROVED |