FYB1 (FYN binding protein 1) - Rat Genome Database

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Gene: FYB1 (FYN binding protein 1) Homo sapiens
Analyze
Symbol: FYB1
Name: FYN binding protein 1
RGD ID: 1603714
HGNC Page HGNC:4036
Description: Predicted to enable signaling receptor binding activity. Predicted to be involved in T cell receptor signaling pathway; integrin-mediated signaling pathway; and protein localization to plasma membrane. Predicted to be located in actin cytoskeleton; cytosol; and nucleus. Predicted to be part of protein-containing complex. Predicted to be active in plasma membrane. Implicated in thrombocytopenia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADAP; adhesion and degranulation promoting adaptor protein; adhesion and degranulation-promoting adaptor protein; FYB; FYB-120/130; FYN-binding protein; FYN-binding protein (FYB-120/130); FYN-binding protein 1; FYN-T-binding protein; p120/p130; PRO0823; SLAP-130; SLAP130; SLP-76-associated phosphoprotein; THC3
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
GRCh38539,105,252 - 39,274,528 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl539,105,252 - 39,274,528 (-)EnsemblGRCh38hg38GRCh38
GRCh37539,105,354 - 39,270,751 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36539,141,114 - 39,255,424 (-)NCBINCBI36Build 36hg18NCBI36
Celera538,991,920 - 39,106,222 (-)NCBICelera
Cytogenetic Map5p13.1NCBI
HuRef539,056,971 - 39,222,025 (-)NCBIHuRef
CHM1_1539,107,349 - 39,272,677 (-)NCBICHM1_1
T2T-CHM13v2.0539,354,788 - 39,524,036 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# 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
Additional References at PubMed
PMID:7504057   PMID:9115214   PMID:9207119   PMID:9671755   PMID:9748251   PMID:9755858   PMID:10229084   PMID:10409671   PMID:10469599   PMID:10497204   PMID:10502464   PMID:10570256  
PMID:10671560   PMID:10747096   PMID:10856234   PMID:10942756   PMID:12458214   PMID:12477932   PMID:14702039   PMID:15096483   PMID:15144186   PMID:15342556   PMID:15843031   PMID:15849195  
PMID:16020549   PMID:16344560   PMID:16461356   PMID:16503409   PMID:16831444   PMID:16980616   PMID:17474147   PMID:17511475   PMID:17785790   PMID:18067320   PMID:18802088   PMID:19798671  
PMID:19807924   PMID:20164171   PMID:20379614   PMID:20534575   PMID:21536650   PMID:21873635   PMID:21881001   PMID:22074159   PMID:23628395   PMID:23979596   PMID:24047317   PMID:24523237  
PMID:24769494   PMID:25516138   PMID:25729932   PMID:25814554   PMID:25876182   PMID:25909459   PMID:26202465   PMID:26246585   PMID:27258783   PMID:27335501   PMID:29127148   PMID:29568343  
PMID:30021884   PMID:30305305   PMID:30639242   PMID:33961781   PMID:34048709   PMID:34295339   PMID:34882057  


Genomics

Comparative Map Data
FYB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38539,105,252 - 39,274,528 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl539,105,252 - 39,274,528 (-)EnsemblGRCh38hg38GRCh38
GRCh37539,105,354 - 39,270,751 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36539,141,114 - 39,255,424 (-)NCBINCBI36Build 36hg18NCBI36
Celera538,991,920 - 39,106,222 (-)NCBICelera
Cytogenetic Map5p13.1NCBI
HuRef539,056,971 - 39,222,025 (-)NCBIHuRef
CHM1_1539,107,349 - 39,272,677 (-)NCBICHM1_1
T2T-CHM13v2.0539,354,788 - 39,524,036 (-)NCBIT2T-CHM13v2.0
Fyb1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39156,552,280 - 6,695,089 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl156,552,334 - 6,692,794 (+)EnsemblGRCm39 Ensembl
GRCm38156,522,796 - 6,665,608 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl156,522,853 - 6,663,313 (+)EnsemblGRCm38mm10GRCm38
MGSCv37156,529,871 - 6,613,312 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36156,527,086 - 6,610,527 (+)NCBIMGSCv36mm8
Celera156,428,716 - 6,511,910 (+)NCBICelera
Cytogenetic Map15A1NCBI
cM Map153.19NCBI
Fyb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8257,360,084 - 57,508,609 (+)NCBIGRCr8
mRatBN7.2255,621,585 - 55,781,206 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl255,632,698 - 55,779,629 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx262,788,995 - 62,878,724 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0260,862,372 - 60,953,666 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0255,864,992 - 55,954,723 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0255,834,904 - 55,983,805 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl255,835,151 - 55,983,804 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0275,576,934 - 75,725,130 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4255,858,764 - 55,950,014 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera251,310,594 - 51,399,297 (+)NCBICelera
Cytogenetic Map2q16NCBI
Fyb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542623,622,004 - 23,717,454 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542623,621,355 - 23,777,086 (-)NCBIChiLan1.0ChiLan1.0
FYB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2471,063,022 - 71,231,267 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1569,216,646 - 69,384,905 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0571,100,184 - 71,268,471 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1576,194,420 - 76,307,792 (+)NCBIpanpan1.1PanPan1.1panPan2
FYB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1469,729,481 - 69,876,962 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl469,729,462 - 69,874,845 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha469,403,032 - 69,553,362 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0470,242,306 - 70,392,973 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl470,245,209 - 70,392,326 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1469,991,531 - 70,141,946 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0470,103,843 - 70,254,571 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0470,643,055 - 70,793,407 (+)NCBIUU_Cfam_GSD_1.0
Fyb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213228,201,201 - 228,364,092 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365183,063,257 - 3,169,469 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FYB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1624,333,033 - 24,507,740 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11624,332,539 - 24,507,768 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21625,519,895 - 25,621,417 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FYB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1437,912,771 - 38,078,727 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl437,914,956 - 38,012,623 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607128,282,137 - 28,448,698 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fyb1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475915,683,779 - 15,793,908 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475915,683,741 - 15,794,628 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FYB1
72 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834] Chr5:26593632..50288555 [GRCh38]
Chr5:26593741..49584389 [GRCh37]
Chr5:26629498..49620146 [NCBI36]
Chr5:5p14.1-q11.1
pathogenic
GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3 copy number gain See cases [RCV000051835] Chr5:35700480..45260029 [GRCh38]
Chr5:35700582..45260131 [GRCh37]
Chr5:35736339..45295888 [NCBI36]
Chr5:5p13.2-12
pathogenic
GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3 copy number gain See cases [RCV000051836] Chr5:36374107..51103841 [GRCh38]
Chr5:36374209..50399675 [GRCh37]
Chr5:36409966..50435432 [NCBI36]
Chr5:5p13.2-q11.1
pathogenic
GRCh38/hg38 5p13.2-13.1(chr5:37016043-39383281)x3 copy number gain See cases [RCV000051837] Chr5:37016043..39383281 [GRCh38]
Chr5:37016145..39383383 [GRCh37]
Chr5:37051902..39419140 [NCBI36]
Chr5:5p13.2-13.1
pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12
pathogenic
NM_001243093.1(FYB):c.2233G>A (p.Glu745Lys) single nucleotide variant Malignant melanoma [RCV000066920] Chr5:39119570 [GRCh38]
Chr5:39119672 [GRCh37]
Chr5:39155429 [NCBI36]
Chr5:5p13.1
not provided
NM_001243093.1(FYB):c.2232G>A (p.Gln744=) single nucleotide variant Malignant melanoma [RCV000066921] Chr5:39119571 [GRCh38]
Chr5:39119673 [GRCh37]
Chr5:39155430 [NCBI36]
Chr5:5p13.1
not provided
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11
pathogenic
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1
pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12
pathogenic
GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3 copy number gain See cases [RCV001310288] Chr5:29081195..45294031 [GRCh37]
Chr5:5p13.3-12
pathogenic
GRCh37/hg19 5p13.2-13.1(chr5:37298599-39311411)x3 copy number gain See cases [RCV000447631] Chr5:37298599..39311411 [GRCh37]
Chr5:5p13.2-13.1
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3 copy number gain See cases [RCV000512120] Chr5:24281195..46389339 [GRCh37]
Chr5:5p14.2-11
likely pathogenic
NM_001465.6(FYB1):c.393G>A (p.Trp131Ter) single nucleotide variant Thrombocytopenia 3 [RCV000477969] Chr5:39202568 [GRCh38]
Chr5:39202670 [GRCh37]
Chr5:5p13.1
pathogenic
NM_001465.6(FYB1):c.1385_1386del (p.Thr461_Tyr462insTer) microsatellite Thrombocytopenia 3 [RCV000477971] Chr5:39138665..39138666 [GRCh38]
Chr5:39138767..39138768 [GRCh37]
Chr5:5p13.1
pathogenic
NM_001465.6(FYB1):c.1922T>C (p.Val641Ala) single nucleotide variant not specified [RCV000501347] Chr5:39126121 [GRCh38]
Chr5:39126223 [GRCh37]
Chr5:5p13.1
likely benign
NM_001465.6(FYB1):c.945G>T (p.Lys315Asn) single nucleotide variant Inborn genetic diseases [RCV003278853]|not specified [RCV000504374] Chr5:39202016 [GRCh38]
Chr5:39202118 [GRCh37]
Chr5:5p13.1
uncertain significance
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_001465.6(FYB1):c.1152G>C (p.Gln384His) single nucleotide variant Inborn genetic diseases [RCV003257149] Chr5:39153588 [GRCh38]
Chr5:39153690 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_001465.6(FYB1):c.2455G>A (p.Asp819Asn) single nucleotide variant Inborn genetic diseases [RCV003300495] Chr5:39108243 [GRCh38]
Chr5:39108345 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_001465.6(FYB1):c.685C>A (p.Leu229Met) single nucleotide variant Inborn genetic diseases [RCV003286789] Chr5:39202276 [GRCh38]
Chr5:39202378 [GRCh37]
Chr5:5p13.1
uncertain significance
Single allele deletion not provided [RCV000677930] Chr5:39250414..40714234 [GRCh38]
Chr5:39250513..40714333 [GRCh37]
Chr5:5p13.1
uncertain significance
GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3 copy number gain not provided [RCV000682542] Chr5:27227243..45685844 [GRCh37]
Chr5:5p14.1-12
pathogenic
NM_001465.6(FYB1):c.2046-128G>A single nucleotide variant not provided [RCV001537337] Chr5:39124406 [GRCh38]
Chr5:39124508 [GRCh37]
Chr5:5p13.1
benign
GRCh37/hg19 5p13.3-12(chr5:31351588-43480111)x3 copy number gain not provided [RCV000744593] Chr5:31351588..43480111 [GRCh37]
Chr5:5p13.3-12
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p13.1(chr5:38728261-39113920)x3 copy number gain not provided [RCV000744667] Chr5:38728261..39113920 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.*192A>T single nucleotide variant not provided [RCV001540454] Chr5:39107251 [GRCh38]
Chr5:39107353 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.374C>A (p.Ser125Tyr) single nucleotide variant not provided [RCV001724650] Chr5:39202587 [GRCh38]
Chr5:39202689 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1135+8C>A single nucleotide variant not provided [RCV000958789]|not specified [RCV003151238] Chr5:39201818 [GRCh38]
Chr5:39201920 [GRCh37]
Chr5:5p13.1
benign|likely benign
GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3 copy number gain musculoskeletal system issues [RCV002284293] Chr5:36053583..46389339 [GRCh37]
Chr5:5p13.2-11
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3 copy number gain not provided [RCV000848003] Chr5:34453883..46389339 [GRCh37]
Chr5:5p13.2-11
pathogenic
NM_001465.6(FYB1):c.1154C>T (p.Thr385Met) single nucleotide variant not provided [RCV001200514] Chr5:39153586 [GRCh38]
Chr5:39153688 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_001465.6(FYB1):c.243G>A (p.Pro81=) single nucleotide variant FYB1-related condition [RCV003966312]|not provided [RCV003312623] Chr5:39202718 [GRCh38]
Chr5:39202820 [GRCh37]
Chr5:5p13.1
likely benign
NC_000005.9:g.(?_33944753)_(39364566_?)dup duplication not provided [RCV003107632] Chr5:33944753..39364566 [GRCh37]
Chr5:5p13.2-13.1
uncertain significance
NC_000005.10:g.39270928GT[13] microsatellite not provided [RCV001655082] Chr5:39270926..39270927 [GRCh38]
Chr5:39271028..39271029 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1710C>T (p.Asp570=) single nucleotide variant not provided [RCV001707044] Chr5:39134315 [GRCh38]
Chr5:39134417 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1817+325A>C single nucleotide variant not provided [RCV001641008] Chr5:39133883 [GRCh38]
Chr5:39133985 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1359+159T>C single nucleotide variant not provided [RCV001646023] Chr5:39139074 [GRCh38]
Chr5:39139176 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1907+290del deletion not provided [RCV001656039] Chr5:39127451 [GRCh38]
Chr5:39127553 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1907+140G>A single nucleotide variant not provided [RCV001620343] Chr5:39127601 [GRCh38]
Chr5:39127703 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.2435+44T>A single nucleotide variant not provided [RCV001673441] Chr5:39110312 [GRCh38]
Chr5:39110414 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.2468-316T>C single nucleotide variant not provided [RCV001620885] Chr5:39107781 [GRCh38]
Chr5:39107883 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.961A>G (p.Thr321Ala) single nucleotide variant Inborn genetic diseases [RCV003275937] Chr5:39202000 [GRCh38]
Chr5:39202102 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_001465.6(FYB1):c.995A>G (p.Lys332Arg) single nucleotide variant not provided [RCV000958939] Chr5:39201966 [GRCh38]
Chr5:39202068 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.819A>C (p.Pro273=) single nucleotide variant not provided [RCV000903517] Chr5:39202142 [GRCh38]
Chr5:39202244 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.2152G>T (p.Val718Phe) single nucleotide variant not provided [RCV001688868] Chr5:39119621 [GRCh38]
Chr5:39119723 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.2467+11T>C single nucleotide variant not provided [RCV001676505] Chr5:39108220 [GRCh38]
Chr5:39108322 [GRCh37]
Chr5:5p13.1
benign
GRCh37/hg19 5p13.1-q11.1(chr5:38432180-49441945)x3 copy number gain not provided [RCV001005674] Chr5:38432180..49441945 [GRCh37]
Chr5:5p13.1-q11.1
pathogenic
NM_001465.6(FYB1):c.1908-320C>A single nucleotide variant not provided [RCV001713454] Chr5:39126455 [GRCh38]
Chr5:39126557 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.2046-213T>A single nucleotide variant not provided [RCV001659281] Chr5:39124491 [GRCh38]
Chr5:39124593 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.2239-106T>C single nucleotide variant not provided [RCV001636176] Chr5:39119142 [GRCh38]
Chr5:39119244 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1675+222G>A single nucleotide variant not provided [RCV001621183] Chr5:39134633 [GRCh38]
Chr5:39134735 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.2239-84A>C single nucleotide variant not provided [RCV001688125] Chr5:39119120 [GRCh38]
Chr5:39119222 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1394+225A>G single nucleotide variant not provided [RCV001660988] Chr5:39138432 [GRCh38]
Chr5:39138534 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1817+141A>G single nucleotide variant not provided [RCV001639319] Chr5:39134067 [GRCh38]
Chr5:39134169 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.2238+76A>G single nucleotide variant not provided [RCV001653225] Chr5:39119459 [GRCh38]
Chr5:39119561 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1908-204del deletion not provided [RCV001677685] Chr5:39126339 [GRCh38]
Chr5:39126441 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1293-278A>T single nucleotide variant not provided [RCV001655514] Chr5:39141419 [GRCh38]
Chr5:39141521 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1292+21C>T single nucleotide variant not provided [RCV001620481] Chr5:39153427 [GRCh38]
Chr5:39153529 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1296C>T (p.Ser432=) single nucleotide variant not provided [RCV001598777] Chr5:39141138 [GRCh38]
Chr5:39141240 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1135+29T>C single nucleotide variant not provided [RCV001718472] Chr5:39201797 [GRCh38]
Chr5:39201899 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1841-51C>G single nucleotide variant not provided [RCV001659000] Chr5:39127858 [GRCh38]
Chr5:39127960 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.2467+24T>C single nucleotide variant not provided [RCV001614896] Chr5:39108207 [GRCh38]
Chr5:39108309 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.2045+301C>G single nucleotide variant not provided [RCV001671167] Chr5:39125697 [GRCh38]
Chr5:39125799 [GRCh37]
Chr5:5p13.1
benign
NC_000005.10:g.39270928GT[12] microsatellite not provided [RCV001669097] Chr5:39270926..39270927 [GRCh38]
Chr5:39271028..39271029 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1292+299C>A single nucleotide variant not provided [RCV001616310] Chr5:39153149 [GRCh38]
Chr5:39153251 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1817+15G>A single nucleotide variant not provided [RCV001708988] Chr5:39134193 [GRCh38]
Chr5:39134295 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1515+322T>C single nucleotide variant not provided [RCV001713922] Chr5:39137278 [GRCh38]
Chr5:39137380 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.2434A>C (p.Asn812His) single nucleotide variant Thrombocytopenia 3 [RCV001333946] Chr5:39110357 [GRCh38]
Chr5:39110459 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_001465.6(FYB1):c.1340-311T>C single nucleotide variant not provided [RCV001538341] Chr5:39139563 [GRCh38]
Chr5:39139665 [GRCh37]
Chr5:5p13.1
benign
GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3 copy number gain not provided [RCV001537930] Chr5:34984696..46405042 [GRCh37]
Chr5:5p13.2-11
pathogenic
NM_001465.6(FYB1):c.1676-151T>G single nucleotide variant not provided [RCV001540145] Chr5:39134500 [GRCh38]
Chr5:39134602 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1395-144C>T single nucleotide variant not provided [RCV001707107] Chr5:39137864 [GRCh38]
Chr5:39137966 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1907+268_1907+269dup duplication not provided [RCV001695535] Chr5:39127450..39127451 [GRCh38]
Chr5:39127552..39127553 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1292+298_1292+299insACACCAACTCCT insertion not provided [RCV001695202] Chr5:39153149..39153150 [GRCh38]
Chr5:39153251..39153252 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1136-175C>T single nucleotide variant not provided [RCV001715990] Chr5:39153779 [GRCh38]
Chr5:39153881 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1339+109T>C single nucleotide variant not provided [RCV001686530] Chr5:39140986 [GRCh38]
Chr5:39141088 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1817+291T>C single nucleotide variant not provided [RCV001715993] Chr5:39133917 [GRCh38]
Chr5:39134019 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1359+200A>T single nucleotide variant not provided [RCV001674644] Chr5:39139033 [GRCh38]
Chr5:39139135 [GRCh37]
Chr5:5p13.1
benign
GRCh37/hg19 5p14.1-11(chr5:26382110-46389339) copy number gain not specified [RCV002053485] Chr5:26382110..46389339 [GRCh37]
Chr5:5p14.1-11
pathogenic
NM_001465.6(FYB1):c.2068T>C (p.Leu690=) single nucleotide variant not specified [RCV003151527] Chr5:39124256 [GRCh38]
Chr5:39124358 [GRCh37]
Chr5:5p13.1
likely benign
GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3 copy number gain not provided [RCV002474514] Chr5:29348753..46389339 [GRCh37]
Chr5:5p13.3-11
pathogenic
GRCh37/hg19 5p13.1(chr5:38747296-39159120)x3 copy number gain not provided [RCV002475685] Chr5:38747296..39159120 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_001465.6(FYB1):c.674C>A (p.Ser225Tyr) single nucleotide variant Inborn genetic diseases [RCV003204017] Chr5:39202287 [GRCh38]
Chr5:39202389 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_001465.6(FYB1):c.385T>C (p.Phe129Leu) single nucleotide variant Inborn genetic diseases [RCV003174500] Chr5:39202576 [GRCh38]
Chr5:39202678 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_001465.6(FYB1):c.743A>T (p.Lys248Ile) single nucleotide variant Inborn genetic diseases [RCV003286824] Chr5:39202218 [GRCh38]
Chr5:39202320 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_001465.6(FYB1):c.405C>G (p.Asn135Lys) single nucleotide variant Thrombocytopenia 3 [RCV003143432] Chr5:39202556 [GRCh38]
Chr5:39202658 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_001465.6(FYB1):c.1106C>G (p.Thr369Arg) single nucleotide variant Inborn genetic diseases [RCV003174179] Chr5:39201855 [GRCh38]
Chr5:39201957 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_001465.6(FYB1):c.2294C>T (p.Ser765Phe) single nucleotide variant Inborn genetic diseases [RCV003179366] Chr5:39118981 [GRCh38]
Chr5:39119083 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_001465.6(FYB1):c.2357C>T (p.Thr786Ile) single nucleotide variant Inborn genetic diseases [RCV003378805] Chr5:39118918 [GRCh38]
Chr5:39119020 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_001465.6(FYB1):c.1397A>G (p.Glu466Gly) single nucleotide variant Inborn genetic diseases [RCV003381126] Chr5:39137718 [GRCh38]
Chr5:39137820 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_001465.6(FYB1):c.1022C>A (p.Thr341Asn) single nucleotide variant Inborn genetic diseases [RCV003364380] Chr5:39201939 [GRCh38]
Chr5:39202041 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_001465.6(FYB1):c.2136G>T (p.Met712Ile) single nucleotide variant Inborn genetic diseases [RCV003369445] Chr5:39122338 [GRCh38]
Chr5:39122440 [GRCh37]
Chr5:5p13.1
uncertain significance
NM_001465.6(FYB1):c.423T>G (p.Ser141Arg) single nucleotide variant Inborn genetic diseases [RCV003355964] Chr5:39202538 [GRCh38]
Chr5:39202640 [GRCh37]
Chr5:5p13.1
uncertain significance
GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3 copy number gain See cases [RCV003482191] Chr5:29299893..45899898 [GRCh38]
Chr5:5p13.3-12
likely pathogenic
NM_001465.6(FYB1):c.1629A>G (p.Thr543=) single nucleotide variant not provided [RCV003427454] Chr5:39134901 [GRCh38]
Chr5:39135003 [GRCh37]
Chr5:5p13.1
likely benign
NM_001465.6(FYB1):c.1941G>A (p.Thr647=) single nucleotide variant FYB1-related condition [RCV003939002]|not provided [RCV003429626] Chr5:39126102 [GRCh38]
Chr5:39126204 [GRCh37]
Chr5:5p13.1
likely benign
NM_001465.6(FYB1):c.1651T>C (p.Leu551=) single nucleotide variant not provided [RCV003429627] Chr5:39134879 [GRCh38]
Chr5:39134981 [GRCh37]
Chr5:5p13.1
likely benign
NM_001465.6(FYB1):c.459G>A (p.Pro153=) single nucleotide variant not provided [RCV003429628] Chr5:39202502 [GRCh38]
Chr5:39202604 [GRCh37]
Chr5:5p13.1
likely benign
NM_001465.6(FYB1):c.290G>T (p.Ser97Ile) single nucleotide variant FYB1-related condition [RCV003911522] Chr5:39202671 [GRCh38]
Chr5:39202773 [GRCh37]
Chr5:5p13.1
likely benign
NM_001465.6(FYB1):c.1280C>T (p.Pro427Leu) single nucleotide variant FYB1-related condition [RCV003919792] Chr5:39153460 [GRCh38]
Chr5:39153562 [GRCh37]
Chr5:5p13.1
likely benign
NM_001465.6(FYB1):c.1906G>T (p.Gly636Cys) single nucleotide variant FYB1-related condition [RCV003969779] Chr5:39127742 [GRCh38]
Chr5:39127844 [GRCh37]
Chr5:5p13.1
likely benign
NM_001465.6(FYB1):c.2000G>A (p.Arg667Gln) single nucleotide variant FYB1-related condition [RCV003937006] Chr5:39126043 [GRCh38]
Chr5:39126145 [GRCh37]
Chr5:5p13.1
likely benign
NM_001465.6(FYB1):c.2412C>T (p.Val804=) single nucleotide variant FYB1-related condition [RCV003922273] Chr5:39110379 [GRCh38]
Chr5:39110481 [GRCh37]
Chr5:5p13.1
likely benign
NM_001465.6(FYB1):c.982C>A (p.Gln328Lys) single nucleotide variant FYB1-related condition [RCV003971829] Chr5:39201979 [GRCh38]
Chr5:39202081 [GRCh37]
Chr5:5p13.1
benign
NM_001465.6(FYB1):c.1281G>A (p.Pro427=) single nucleotide variant FYB1-related condition [RCV003981429] Chr5:39153459 [GRCh38]
Chr5:39153561 [GRCh37]
Chr5:5p13.1
likely benign
NM_001465.6(FYB1):c.1516-5T>C single nucleotide variant FYB1-related condition [RCV003931765] Chr5:39135019 [GRCh38]
Chr5:39135121 [GRCh37]
Chr5:5p13.1
likely benign
NM_001465.6(FYB1):c.18G>A (p.Thr6=) single nucleotide variant FYB1-related condition [RCV003977197] Chr5:39202943 [GRCh38]
Chr5:39203045 [GRCh37]
Chr5:5p13.1
likely benign
NM_001465.6(FYB1):c.606G>A (p.Pro202=) single nucleotide variant FYB1-related condition [RCV003941793] Chr5:39202355 [GRCh38]
Chr5:39202457 [GRCh37]
Chr5:5p13.1
likely benign
NM_001465.6(FYB1):c.410C>T (p.Pro137Leu) single nucleotide variant FYB1-related condition [RCV003916846] Chr5:39202551 [GRCh38]
Chr5:39202653 [GRCh37]
Chr5:5p13.1
likely benign
NM_001465.6(FYB1):c.804G>A (p.Ala268=) single nucleotide variant FYB1-related condition [RCV003974396] Chr5:39202157 [GRCh38]
Chr5:39202259 [GRCh37]
Chr5:5p13.1
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2150
Count of miRNA genes:961
Interacting mature miRNAs:1159
Transcripts:ENST00000351578, ENST00000503065, ENST00000504542, ENST00000505428, ENST00000506557, ENST00000509072, ENST00000510188, ENST00000512138, ENST00000512982, ENST00000515010, ENST00000540520
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.

Markers in Region
SGC34783  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37539,137,806 - 39,137,931UniSTSGRCh37
Build 36539,173,563 - 39,173,688RGDNCBI36
Celera539,024,369 - 39,024,494RGD
Cytogenetic Map5p13.1UniSTS
HuRef539,089,426 - 39,089,551UniSTS
GeneMap99-GB4 RH Map5129.62UniSTS
Whitehead-RH Map5127.2UniSTS
D14S897  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37539,168,967 - 39,169,079UniSTSGRCh37
GRCh371493,306,020 - 93,306,132UniSTSGRCh37
Build 36539,204,724 - 39,204,836RGDNCBI36
Celera539,055,541 - 39,055,653RGD
Celera1473,360,161 - 73,360,273UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map5p13.1UniSTS
HuRef539,120,564 - 39,120,676UniSTS
HuRef1473,489,064 - 73,489,176UniSTS
STS-W95074  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37539,202,278 - 39,202,509UniSTSGRCh37
Build 36539,238,035 - 39,238,266RGDNCBI36
Celera539,088,835 - 39,089,066RGD
Cytogenetic Map5p13.1UniSTS
HuRef539,153,866 - 39,154,097UniSTS
GeneMap99-GB4 RH Map5153.7UniSTS
NCBI RH Map594.0UniSTS
FYB_2226  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37539,105,286 - 39,106,068UniSTSGRCh37
Build 36539,141,043 - 39,141,825RGDNCBI36
Celera538,991,849 - 38,992,631RGD
HuRef539,056,903 - 39,057,685UniSTS
RH44564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37539,137,868 - 39,138,047UniSTSGRCh37
Build 36539,173,625 - 39,173,804RGDNCBI36
Celera539,024,431 - 39,024,610RGD
Cytogenetic Map5p13.1UniSTS
HuRef539,089,488 - 39,089,667UniSTS
GeneMap99-GB4 RH Map5130.48UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 134 812 77 17 1222 17 96 9 130 43 62 556 7 142 19 3
Low 2118 1809 1554 552 493 393 3281 1190 2785 312 1242 867 166 1 1061 2035 2 2
Below cutoff 113 369 83 48 136 48 789 962 765 38 107 66 1 1 734

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_199335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF001862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF116653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF198052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI961953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV761195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC058827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP265190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ015514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD691549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD701507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA452064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA585094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U93049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000351578   ⟹   ENSP00000316460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,105,252 - 39,219,563 (-)Ensembl
RefSeq Acc Id: ENST00000503065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,269,645 - 39,274,472 (-)Ensembl
RefSeq Acc Id: ENST00000504542   ⟹   ENSP00000420989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,202,956 - 39,219,563 (-)Ensembl
RefSeq Acc Id: ENST00000506557   ⟹   ENSP00000421988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,202,774 - 39,219,576 (-)Ensembl
RefSeq Acc Id: ENST00000509072   ⟹   ENSP00000423888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,202,894 - 39,219,563 (-)Ensembl
RefSeq Acc Id: ENST00000510188   ⟹   ENSP00000426597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,202,438 - 39,274,528 (-)Ensembl
RefSeq Acc Id: ENST00000512138   ⟹   ENSP00000424919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,202,617 - 39,270,644 (-)Ensembl
RefSeq Acc Id: ENST00000512982   ⟹   ENSP00000425845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,105,252 - 39,219,563 (-)Ensembl
RefSeq Acc Id: ENST00000515010   ⟹   ENSP00000426346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,107,284 - 39,203,027 (-)Ensembl
RefSeq Acc Id: ENST00000642942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,107,169 - 39,110,642 (-)Ensembl
RefSeq Acc Id: ENST00000644817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,137,404 - 39,140,030 (-)Ensembl
RefSeq Acc Id: ENST00000646045   ⟹   ENSP00000493623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,105,252 - 39,270,649 (-)Ensembl
RefSeq Acc Id: ENST00000646444   ⟹   ENSP00000495508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,107,308 - 39,127,807 (-)Ensembl
RefSeq Acc Id: ENST00000647313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,107,058 - 39,124,317 (-)Ensembl
RefSeq Acc Id: NM_001243093   ⟹   NP_001230022
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,105,252 - 39,270,649 (-)NCBI
HuRef539,056,971 - 39,222,025 (-)NCBI
CHM1_1539,107,349 - 39,272,677 (-)NCBI
T2T-CHM13v2.0539,354,788 - 39,520,153 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349333   ⟹   NP_001336262
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,105,252 - 39,219,563 (-)NCBI
T2T-CHM13v2.0539,354,788 - 39,469,075 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001465   ⟹   NP_001456
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,105,252 - 39,219,563 (-)NCBI
GRCh37539,105,354 - 39,270,759 (-)NCBI
Build 36539,141,114 - 39,255,424 (-)NCBI Archive
HuRef539,056,971 - 39,222,025 (-)NCBI
CHM1_1539,107,349 - 39,221,606 (-)NCBI
T2T-CHM13v2.0539,354,788 - 39,469,075 (-)NCBI
Sequence:
RefSeq Acc Id: NM_018594   ⟹   NP_061064
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,105,252 - 39,219,563 (-)NCBI
T2T-CHM13v2.0539,354,788 - 39,469,075 (-)NCBI
Sequence:
RefSeq Acc Id: NM_199335   ⟹   NP_955367
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,105,252 - 39,219,563 (-)NCBI
GRCh37539,105,354 - 39,270,759 (-)NCBI
Build 36539,141,114 - 39,255,424 (-)NCBI Archive
HuRef539,056,971 - 39,222,025 (-)NCBI
CHM1_1539,107,349 - 39,221,606 (-)NCBI
T2T-CHM13v2.0539,354,788 - 39,469,075 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006714464   ⟹   XP_006714527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,105,252 - 39,274,528 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514008   ⟹   XP_011512310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,105,252 - 39,219,563 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514009   ⟹   XP_011512311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,105,252 - 39,219,563 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514010   ⟹   XP_011512312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,105,252 - 39,270,649 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514011   ⟹   XP_011512313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,105,252 - 39,270,649 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514012   ⟹   XP_011512314
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,122,336 - 39,270,649 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514013   ⟹   XP_011512315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,137,631 - 39,270,649 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047417071   ⟹   XP_047273027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,105,252 - 39,270,649 (-)NCBI
RefSeq Acc Id: XM_047417072   ⟹   XP_047273028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,105,252 - 39,274,528 (-)NCBI
RefSeq Acc Id: XM_047417073   ⟹   XP_047273029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,105,252 - 39,274,528 (-)NCBI
RefSeq Acc Id: XM_047417074   ⟹   XP_047273030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,105,252 - 39,270,649 (-)NCBI
RefSeq Acc Id: XM_054352287   ⟹   XP_054208262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0539,354,788 - 39,469,075 (-)NCBI
RefSeq Acc Id: XM_054352288   ⟹   XP_054208263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0539,354,788 - 39,524,036 (-)NCBI
RefSeq Acc Id: XM_054352289   ⟹   XP_054208264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0539,354,788 - 39,469,075 (-)NCBI
RefSeq Acc Id: XM_054352290   ⟹   XP_054208265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0539,354,788 - 39,520,153 (-)NCBI
RefSeq Acc Id: XM_054352291   ⟹   XP_054208266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0539,371,871 - 39,520,153 (-)NCBI
RefSeq Acc Id: XM_054352292   ⟹   XP_054208267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0539,387,135 - 39,520,153 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001230022 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336262 (Get FASTA)   NCBI Sequence Viewer  
  NP_001456 (Get FASTA)   NCBI Sequence Viewer  
  NP_061064 (Get FASTA)   NCBI Sequence Viewer  
  NP_955367 (Get FASTA)   NCBI Sequence Viewer  
  XP_006714527 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512310 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512311 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512312 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512313 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512314 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512315 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273027 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273028 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273029 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273030 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208262 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208263 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208264 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208265 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208266 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208267 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB62226 (Get FASTA)   NCBI Sequence Viewer  
  AAC51300 (Get FASTA)   NCBI Sequence Viewer  
  AAF62400 (Get FASTA)   NCBI Sequence Viewer  
  AAF71073 (Get FASTA)   NCBI Sequence Viewer  
  AAH15933 (Get FASTA)   NCBI Sequence Viewer  
  AAI17450 (Get FASTA)   NCBI Sequence Viewer  
  AAI43646 (Get FASTA)   NCBI Sequence Viewer  
  BAF83092 (Get FASTA)   NCBI Sequence Viewer  
  BAG59594 (Get FASTA)   NCBI Sequence Viewer  
  EAW55981 (Get FASTA)   NCBI Sequence Viewer  
  EAW55982 (Get FASTA)   NCBI Sequence Viewer  
  EAW55983 (Get FASTA)   NCBI Sequence Viewer  
  EAW55984 (Get FASTA)   NCBI Sequence Viewer  
  EAW55985 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000316460
  ENSP00000316460.7
  ENSP00000421988.2
  ENSP00000423888.1
  ENSP00000424919.1
  ENSP00000425845
  ENSP00000425845.3
  ENSP00000426346.1
  ENSP00000426597.1
  ENSP00000493623
  ENSP00000493623.1
  ENSP00000495508.1
GenBank Protein O15117 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_955367   ⟸   NM_199335
- Peptide Label: isoform 2
- UniProtKB: O00359 (UniProtKB/Swiss-Prot),   E9PBV9 (UniProtKB/Swiss-Prot),   B4DLN2 (UniProtKB/Swiss-Prot),   A8K2Y8 (UniProtKB/Swiss-Prot),   Q9NZI9 (UniProtKB/Swiss-Prot),   O15117 (UniProtKB/Swiss-Prot),   Q05DE9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001456   ⟸   NM_001465
- Peptide Label: isoform 1
- UniProtKB: Q05DE9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230022   ⟸   NM_001243093
- Peptide Label: isoform 3
- UniProtKB: Q05DE9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006714527   ⟸   XM_006714464
- Peptide Label: isoform X2
- UniProtKB: Q05DE9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512313   ⟸   XM_011514011
- Peptide Label: isoform X3
- UniProtKB: Q05DE9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512312   ⟸   XM_011514010
- Peptide Label: isoform X2
- UniProtKB: Q05DE9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512310   ⟸   XM_011514008
- Peptide Label: isoform X1
- UniProtKB: Q05DE9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512311   ⟸   XM_011514009
- Peptide Label: isoform X2
- UniProtKB: Q05DE9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512314   ⟸   XM_011514012
- Peptide Label: isoform X4
- UniProtKB: Q05DE9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512315   ⟸   XM_011514013
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001336262   ⟸   NM_001349333
- Peptide Label: isoform 1
- UniProtKB: Q05DE9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_061064   ⟸   NM_018594
- Peptide Label: isoform 4
- UniProtKB: Q05DE9 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000420989   ⟸   ENST00000504542
RefSeq Acc Id: ENSP00000421988   ⟸   ENST00000506557
RefSeq Acc Id: ENSP00000423888   ⟸   ENST00000509072
RefSeq Acc Id: ENSP00000316460   ⟸   ENST00000351578
RefSeq Acc Id: ENSP00000426597   ⟸   ENST00000510188
RefSeq Acc Id: ENSP00000425845   ⟸   ENST00000512982
RefSeq Acc Id: ENSP00000424919   ⟸   ENST00000512138
RefSeq Acc Id: ENSP00000493623   ⟸   ENST00000646045
RefSeq Acc Id: ENSP00000495508   ⟸   ENST00000646444
RefSeq Acc Id: ENSP00000426346   ⟸   ENST00000515010
RefSeq Acc Id: XP_047273029   ⟸   XM_047417073
- Peptide Label: isoform X2
- UniProtKB: Q05DE9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047273028   ⟸   XM_047417072
- Peptide Label: isoform X2
- UniProtKB: Q05DE9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047273030   ⟸   XM_047417074
- Peptide Label: isoform X2
- UniProtKB: Q05DE9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047273027   ⟸   XM_047417071
- Peptide Label: isoform X1
- UniProtKB: Q05DE9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054208263   ⟸   XM_054352288
- Peptide Label: isoform X2
- UniProtKB: Q05DE9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054208265   ⟸   XM_054352290
- Peptide Label: isoform X3
- UniProtKB: Q05DE9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054208262   ⟸   XM_054352287
- Peptide Label: isoform X1
- UniProtKB: Q05DE9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054208264   ⟸   XM_054352289
- Peptide Label: isoform X2
- UniProtKB: Q05DE9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054208266   ⟸   XM_054352291
- Peptide Label: isoform X4
- UniProtKB: Q05DE9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054208267   ⟸   XM_054352292
- Peptide Label: isoform X5
Protein Domains
SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15117-F1-model_v2 AlphaFold O15117 1-783 view protein structure

Promoters
RGD ID:6869442
Promoter ID:EPDNEW_H7885
Type:initiation region
Name:FYB1_2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7886  EPDNEW_H7887  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,203,020 - 39,203,080EPDNEW
RGD ID:6869444
Promoter ID:EPDNEW_H7886
Type:initiation region
Name:FYB1_1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7885  EPDNEW_H7887  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,219,563 - 39,219,623EPDNEW
RGD ID:6803209
Promoter ID:HG_KWN:50012
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   NB4
Transcripts:UC003JLS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36539,237,746 - 39,238,907 (-)MPROMDB
RGD ID:6803208
Promoter ID:HG_KWN:50013
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:ENST00000263405,   ENST00000351578,   NM_001465,   NM_199335
Position:
Human AssemblyChrPosition (strand)Source
Build 36539,255,126 - 39,255,626 (-)MPROMDB
RGD ID:6869446
Promoter ID:EPDNEW_H7887
Type:multiple initiation site
Name:FYB1_3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7885  EPDNEW_H7886  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,274,465 - 39,274,525EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4036 AgrOrtholog
COSMIC FYB1 COSMIC
Ensembl Genes ENSG00000082074 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000351578 ENTREZGENE
  ENST00000351578.12 UniProtKB/Swiss-Prot
  ENST00000506557.5 UniProtKB/TrEMBL
  ENST00000509072.5 UniProtKB/TrEMBL
  ENST00000510188.1 UniProtKB/TrEMBL
  ENST00000512138.1 UniProtKB/TrEMBL
  ENST00000512982 ENTREZGENE
  ENST00000512982.4 UniProtKB/Swiss-Prot
  ENST00000515010.5 UniProtKB/Swiss-Prot
  ENST00000646045 ENTREZGENE
  ENST00000646045.2 UniProtKB/Swiss-Prot
  ENST00000646444.1 UniProtKB/TrEMBL
Gene3D-CATH SH3 Domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000082074 GTEx
HGNC ID HGNC:4036 ENTREZGENE
Human Proteome Map FYB1 Human Proteome Map
InterPro FYB1/2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FYB_hSH3 UniProtKB/Swiss-Prot
  hSH3 UniProtKB/Swiss-Prot
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2533 UniProtKB/Swiss-Prot
NCBI Gene 2533 ENTREZGENE
OMIM 602731 OMIM
PANTHER PTHR16830 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR16830:SF13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam hSH3 UniProtKB/Swiss-Prot
  SH3_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28452 PharmGKB
PROSITE SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SH3-domain UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt A0A2R8YEE1_HUMAN UniProtKB/TrEMBL
  A8K2Y8 ENTREZGENE
  B4DLN2 ENTREZGENE
  D6RAE8_HUMAN UniProtKB/TrEMBL
  D6RC38_HUMAN UniProtKB/TrEMBL
  D6RER7_HUMAN UniProtKB/TrEMBL
  D6RFJ5_HUMAN UniProtKB/TrEMBL
  E9PBV9 ENTREZGENE
  FYB1_HUMAN UniProtKB/Swiss-Prot
  O00359 ENTREZGENE
  O15117 ENTREZGENE
  Q05DE9 ENTREZGENE, UniProtKB/TrEMBL
  Q9NZI9 ENTREZGENE
UniProt Secondary A8K2Y8 UniProtKB/Swiss-Prot
  B4DLN2 UniProtKB/Swiss-Prot
  E9PBV9 UniProtKB/Swiss-Prot
  O00359 UniProtKB/Swiss-Prot
  Q9NZI9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-05-30 FYB1  FYN binding protein 1  FYB  FYN binding protein  Symbol and/or name change 5135510 APPROVED
2011-07-27 FYB  FYN binding protein  FYB  FYN binding protein (FYB-120/130)  Symbol and/or name change 5135510 APPROVED