FRK (fyn related Src family tyrosine kinase) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: FRK (fyn related Src family tyrosine kinase) Homo sapiens
Analyze
Symbol: FRK
Name: fyn related Src family tyrosine kinase
RGD ID: 734122
HGNC Page HGNC
Description: Enables protein tyrosine kinase activity. Involved in negative regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: fyn-related kinase; fyn-related Src family tyrosine kinase; GTK; nuclear tyrosine protein kinase RAK; protein-tyrosine kinase 5; PTK5; PTK5 protein tyrosine kinase 5; RAK; tyrosine-protein kinase FRK
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6115,931,149 - 116,060,891 (-)EnsemblGRCh38hg38GRCh38
GRCh386115,931,149 - 116,100,739 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh376116,252,312 - 116,382,054 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366116,369,386 - 116,488,614 (-)NCBINCBI36hg18NCBI36
Build 346116,369,386 - 116,488,614NCBI
Celera6117,005,260 - 117,124,941 (-)NCBI
Cytogenetic Map6q22.1NCBI
HuRef6113,842,168 - 113,962,110 (-)NCBIHuRef
CHM1_16116,525,566 - 116,645,735 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
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:33277858   PMID:33961781  


Genomics

Comparative Map Data
FRK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6115,931,149 - 116,060,891 (-)EnsemblGRCh38hg38GRCh38
GRCh386115,931,149 - 116,100,739 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh376116,252,312 - 116,382,054 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366116,369,386 - 116,488,614 (-)NCBINCBI36hg18NCBI36
Build 346116,369,386 - 116,488,614NCBI
Celera6117,005,260 - 117,124,941 (-)NCBI
Cytogenetic Map6q22.1NCBI
HuRef6113,842,168 - 113,962,110 (-)NCBIHuRef
CHM1_16116,525,566 - 116,645,735 (-)NCBICHM1_1
Frk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391034,359,396 - 34,487,530 (+)NCBIGRCm39mm39
GRCm39 Ensembl1034,359,395 - 34,487,274 (+)Ensembl
GRCm381034,483,400 - 34,611,232 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1034,483,399 - 34,611,278 (+)EnsemblGRCm38mm10GRCm38
MGSCv371034,203,206 - 34,331,038 (+)NCBIGRCm37mm9NCBIm37
MGSCv361034,172,815 - 34,299,745 (+)NCBImm8
Celera1035,388,501 - 35,517,021 (+)NCBICelera
Cytogenetic Map10B1NCBI
Frk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22038,265,416 - 38,371,038 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl2038,265,280 - 38,371,114 (+)Ensembl
Rnor_6.02041,266,408 - 41,383,731 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2041,266,566 - 41,383,424 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02042,996,389 - 43,115,825 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42038,882,048 - 38,909,179 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12038,905,058 - 38,932,186 (+)NCBI
Celera2039,046,328 - 39,149,411 (+)NCBICelera
Cytogenetic Map20q12NCBI
Frk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955526736,116 - 895,170 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955526736,446 - 892,331 (+)NCBIChiLan1.0ChiLan1.0
FRK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.16117,894,974 - 118,049,161 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6117,894,974 - 118,009,497 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v06113,748,464 - 113,903,350 (-)NCBIMhudiblu_PPA_v0panPan3
FRK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11271,659,397 - 71,756,213 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1271,660,978 - 71,756,705 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1271,420,739 - 71,517,543 (-)NCBI
ROS_Cfam_1.01272,542,156 - 72,639,028 (-)NCBI
UMICH_Zoey_3.11271,894,237 - 71,990,956 (-)NCBI
UNSW_CanFamBas_1.01271,736,303 - 71,832,807 (-)NCBI
UU_Cfam_GSD_1.01272,125,285 - 72,221,594 (-)NCBI
Frk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946106,846,026 - 106,953,104 (-)NCBI
SpeTri2.0NW_004936824575,618 - 677,775 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FRK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl181,605,700 - 81,714,250 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1181,606,599 - 81,714,543 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2191,721,749 - 91,829,785 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FRK
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11357,749,406 - 57,874,948 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1357,755,840 - 57,875,024 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604030,038,022 - 30,192,716 (+)NCBIVero_WHO_p1.0
Frk
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248562,485,044 - 2,580,784 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH67005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,979,734 - 6,979,868UniSTSGRCh37
GRCh37177,166,410 - 77,166,541UniSTSGRCh37
Build 36176,938,998 - 76,939,129RGDNCBI36
Celera128,597,021 - 8,597,155UniSTS
Celera175,405,875 - 75,406,006RGD
Cytogenetic Map6q21-q22.3UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map12p13UniSTS
HuRef6113,940,486 - 113,940,618UniSTS
HuRef175,296,257 - 75,296,388UniSTS
HuRef6113,940,488 - 113,940,618UniSTS
HuRef126,833,463 - 6,833,597UniSTS
D6S1513  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376116,274,671 - 116,276,045UniSTSGRCh37
Celera6117,017,238 - 117,018,612UniSTS
Cytogenetic Map6q21-q22.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3992
Count of miRNA genes:1185
Interacting mature miRNAs:1474
Transcripts:ENST00000538210, ENST00000606080
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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

Sequence

Nucleotide Sequences
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
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
  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

Reference Sequences
RefSeq Acc Id: ENST00000606080   ⟹   ENSP00000476145
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6115,931,149 - 116,060,891 (-)Ensembl
RefSeq Acc Id: NM_002031   ⟹   NP_002022
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386115,931,149 - 116,060,891 (-)NCBI
GRCh376116,262,691 - 116,397,360 (-)NCBI
Build 366116,369,386 - 116,488,614 (-)NCBI Archive
HuRef6113,842,168 - 113,962,110 (-)ENTREZGENE
CHM1_16116,525,566 - 116,645,735 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005266880   ⟹   XP_005266937
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386115,941,031 - 116,060,959 (-)NCBI
GRCh376116,262,691 - 116,397,360 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005266881   ⟹   XP_005266938
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386115,941,031 - 116,060,873 (-)NCBI
GRCh376116,262,691 - 116,397,360 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005266882   ⟹   XP_005266939
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386115,941,031 - 116,100,738 (-)NCBI
GRCh376116,262,691 - 116,397,360 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011535653   ⟹   XP_011533955
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386115,941,031 - 116,100,738 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011535654   ⟹   XP_011533956
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386115,941,031 - 116,100,738 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011535655   ⟹   XP_011533957
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386115,941,031 - 116,100,738 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011535656   ⟹   XP_011533958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386115,941,031 - 116,100,739 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010645   ⟹   XP_016866134
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386115,941,031 - 116,061,352 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002022   ⟸   NM_002031
- UniProtKB: P42685 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005266939   ⟸   XM_005266882
- Peptide Label: isoform X1
- UniProtKB: P42685 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005266937   ⟸   XM_005266880
- Peptide Label: isoform X1
- UniProtKB: P42685 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005266938   ⟸   XM_005266881
- Peptide Label: isoform X1
- UniProtKB: P42685 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011533957   ⟸   XM_011535655
- Peptide Label: isoform X1
- UniProtKB: P42685 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011533956   ⟸   XM_011535654
- Peptide Label: isoform X1
- UniProtKB: P42685 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011533955   ⟸   XM_011535653
- Peptide Label: isoform X1
- UniProtKB: P42685 (UniProtKB/Swiss-Prot)
- 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: P42685 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000476145   ⟸   ENST00000606080
Protein Domains
Protein kinase   SH2   SH3

Promoters
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:
Human AssemblyChrPosition (strand)Source
GRCh386116,060,838 - 116,060,898EPDNEW
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:
Human AssemblyChrPosition (strand)Source
GRCh386116,100,697 - 116,100,757EPDNEW
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:
Human AssemblyChrPosition (strand)Source
Build 366116,488,121 - 116,488,622 (-)MPROMDB

Clinical 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 Goldenhar syndrome [RCV001507328] Chr6:115968722 [GRCh38]
Chr6:116289885 [GRCh37]
Chr6:6q22.1
likely pathogenic
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
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
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
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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3955 AgrOrtholog
COSMIC FRK COSMIC
Ensembl Genes ENSG00000111816 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000476145 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000606080 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.505.10 UniProtKB/Swiss-Prot
GTEx ENSG00000111816 GTEx
HGNC ID HGNC:3955 ENTREZGENE
Human Proteome Map FRK Human Proteome Map
InterPro Kinase-like_dom_sf UniProtKB/Swiss-Prot
  Prot_kinase_dom UniProtKB/Swiss-Prot
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot
  SH2 UniProtKB/Swiss-Prot
  SH2_dom_sf UniProtKB/Swiss-Prot
  SH2_Frk UniProtKB/Swiss-Prot
  SH3-like_dom_sf UniProtKB/Swiss-Prot
  SH3_domain UniProtKB/Swiss-Prot
  Tyr_kinase_AS UniProtKB/Swiss-Prot
  Tyr_kinase_cat_dom UniProtKB/Swiss-Prot
KEGG Report hsa:2444 UniProtKB/Swiss-Prot
NCBI Gene 2444 ENTREZGENE
OMIM 606573 OMIM
Pfam Pkinase_Tyr UniProtKB/Swiss-Prot
  SH2 UniProtKB/Swiss-Prot
  SH3_1 UniProtKB/Swiss-Prot
PharmGKB FRK RGD, PharmGKB
PRINTS SH2DOMAIN UniProtKB/Swiss-Prot
  SH3DOMAIN UniProtKB/Swiss-Prot
  TYRKINASE UniProtKB/Swiss-Prot
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot
  PROTEIN_KINASE_TYR UniProtKB/Swiss-Prot
  SH2 UniProtKB/Swiss-Prot
  SH3 UniProtKB/Swiss-Prot
SMART SH2 UniProtKB/Swiss-Prot
  SH3 UniProtKB/Swiss-Prot
  TyrKc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50044 UniProtKB/Swiss-Prot
  SSF55550 UniProtKB/Swiss-Prot
  SSF56112 UniProtKB/Swiss-Prot
UniProt FRK_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B4DY49 UniProtKB/Swiss-Prot
  Q13128 UniProtKB/Swiss-Prot
  Q9NTR5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-21 FRK  fyn related Src family tyrosine kinase    fyn-related Src family tyrosine kinase  Symbol and/or name change 5135510 APPROVED
2014-07-01 FRK  fyn-related Src family tyrosine kinase    fyn-related kinase  Symbol and/or name change 5135510 APPROVED
2011-08-17 FRK  fyn-related kinase  FRK  fyn-related kinase  Symbol and/or name change 5135510 APPROVED