ALYREF (Aly/REF export factor) - Rat Genome Database
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Gene: ALYREF (Aly/REF export factor) Homo sapiens
Analyze
Symbol: ALYREF
Name: Aly/REF export factor
RGD ID: 1322669
HGNC Page HGNC
Description: Exhibits C5-methylcytidine-containing RNA binding activity. Involved in several processes, including mRNA export from nucleus; regulation of nucleobase-containing compound metabolic process; and viral mRNA export from host cell nucleus. Localizes to cytoplasm and nucleus. Colocalizes with exon-exon junction complex and nuclear chromosome, telomeric region.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ally of AML-1 and LEF-1; ALY; ALY/REF; BEF; bZIP enhancing factor; bZIP-enhancing factor BEF; REF; THO complex 4; THO complex subunit 4; tho4; THOC4; transcriptional coactivator Aly/REF
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100129130  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1781,887,835 - 81,891,586 (-)EnsemblGRCh38hg38GRCh38
GRCh381781,887,835 - 81,891,587 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371779,845,711 - 79,849,464 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361777,439,016 - 77,442,758 (-)NCBINCBI36hg18NCBI36
Build 341777,439,016 - 77,442,758NCBI
Celera1776,449,564 - 76,453,306 (-)NCBI
Cytogenetic Map17q25.3NCBI
HuRef1775,247,636 - 75,251,146 (-)NCBIHuRef
CHM1_11779,931,915 - 79,935,666 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:9119228   PMID:9731529   PMID:9952027   PMID:10488337   PMID:11032328   PMID:11118221   PMID:11546873   PMID:11546874   PMID:11675789   PMID:11707413   PMID:11979277   PMID:11991638  
PMID:12176931   PMID:12226669   PMID:12438613   PMID:12477932   PMID:12944400   PMID:14667819   PMID:15047853   PMID:15489334   PMID:15782174   PMID:15833825   PMID:15998806   PMID:16196087  
PMID:16210410   PMID:16314458   PMID:17190602   PMID:17196963   PMID:17229714   PMID:17234882   PMID:17609285   PMID:17620599   PMID:17643375   PMID:18029348   PMID:18243119   PMID:18562279  
PMID:18974867   PMID:19056867   PMID:19110458   PMID:19165146   PMID:19264631   PMID:19322201   PMID:19369354   PMID:19553338   PMID:19586903   PMID:19710015   PMID:19738201   PMID:19850040  
PMID:20000738   PMID:20015986   PMID:20348541   PMID:20360068   PMID:20431927   PMID:20981025   PMID:21139048   PMID:21145461   PMID:21282530   PMID:21329510   PMID:21799930   PMID:21814512  
PMID:21890473   PMID:21906983   PMID:21907836   PMID:21963094   PMID:22053931   PMID:22144908   PMID:22145905   PMID:22178446   PMID:22268729   PMID:22446626   PMID:22505724   PMID:22586326  
PMID:22623428   PMID:22658674   PMID:22681889   PMID:22761374   PMID:22939629   PMID:22952844   PMID:22990118   PMID:23000965   PMID:23084401   PMID:23125841   PMID:23151878   PMID:23222130  
PMID:23242234   PMID:23297349   PMID:23299939   PMID:23398456   PMID:23403292   PMID:23443559   PMID:23463506   PMID:23637401   PMID:23826332   PMID:24140279   PMID:24270157   PMID:24457600  
PMID:24462114   PMID:24550725   PMID:24711643   PMID:24753416   PMID:24816145   PMID:24999758   PMID:25144556   PMID:25437307   PMID:25609649   PMID:25662211   PMID:25852190   PMID:25921289  
PMID:25948554   PMID:26186194   PMID:26209609   PMID:26344197   PMID:26487511   PMID:26496610   PMID:26603838   PMID:26641092   PMID:26673895   PMID:26687479   PMID:26773052   PMID:26839216  
PMID:27025967   PMID:27049334   PMID:27173435   PMID:27545878   PMID:27591049   PMID:27609421   PMID:27634302   PMID:27684187   PMID:27807029   PMID:27926873   PMID:27976729   PMID:28192407  
PMID:28225217   PMID:28418038   PMID:28514442   PMID:28515276   PMID:28561026   PMID:28675297   PMID:28801509   PMID:28927264   PMID:28934468   PMID:28977470   PMID:28977666   PMID:28982131  
PMID:29053956   PMID:29117863   PMID:29128334   PMID:29229926   PMID:29298432   PMID:29395067   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29676528   PMID:29777862   PMID:29791485  
PMID:29802200   PMID:29845934   PMID:29961565   PMID:30110629   PMID:30196744   PMID:30209976   PMID:30301920   PMID:30320910   PMID:30349055   PMID:30575818   PMID:30585729   PMID:30804502  
PMID:30833792   PMID:30940648   PMID:30948266   PMID:31006538   PMID:31048545   PMID:31059266   PMID:31076518   PMID:31091453   PMID:31104896   PMID:31180492   PMID:31239290   PMID:31248990  
PMID:31253590   PMID:31405213   PMID:31586073   PMID:31685992   PMID:32780723   PMID:32877691  


Genomics

Comparative Map Data
ALYREF
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1781,887,835 - 81,891,586 (-)EnsemblGRCh38hg38GRCh38
GRCh381781,887,835 - 81,891,587 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371779,845,711 - 79,849,464 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361777,439,016 - 77,442,758 (-)NCBINCBI36hg18NCBI36
Build 341777,439,016 - 77,442,758NCBI
Celera1776,449,564 - 76,453,306 (-)NCBI
Cytogenetic Map17q25.3NCBI
HuRef1775,247,636 - 75,251,146 (-)NCBIHuRef
CHM1_11779,931,915 - 79,935,666 (-)NCBICHM1_1
Alyref
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911120,485,330 - 120,489,342 (-)NCBIGRCm39mm39
GRCm3811120,594,504 - 120,598,399 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11120,592,121 - 120,598,365 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711120,455,830 - 120,459,679 (-)NCBIGRCm37mm9NCBIm37
MGSCv3611120,410,606 - 120,414,455 (-)NCBImm8
Celera11132,329,807 - 132,333,656 (-)NCBICelera
Cytogenetic Map11E2NCBI
Alyref
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.010109,768,593 - 109,774,639 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10109,770,876 - 109,774,639 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010109,363,929 - 109,367,692 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410109,984,500 - 109,988,263 (-)NCBIRGSC3.4rn4RGSC3.4
Celera10104,414,714 - 104,418,477 (-)NCBICelera
Cytogenetic Map10q32.3NCBI
Alyref
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555061,278,471 - 1,281,772 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555061,278,230 - 1,282,064 (+)NCBIChiLan1.0ChiLan1.0
ALYREF
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11781,995,578 - 82,000,836 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01776,293,410 - 76,297,171 (-)NCBIMhudiblu_PPA_v0panPan3
ALYREF
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl9399,072 - 402,721 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.19398,207 - 402,787 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Alyref
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365945,398,973 - 5,402,846 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALYREF
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl121,091,976 - 1,103,054 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1121,099,239 - 1,103,058 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
ALYREF
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11673,761,763 - 73,765,560 (-)NCBI
ChlSab1.1 Ensembl1673,757,072 - 73,765,531 (-)Ensembl
Alyref
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462480110,734,392 - 10,738,191 (-)NCBI

Position Markers
SIRT7_1731  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371779,869,700 - 79,870,483UniSTSGRCh37
Build 361777,462,992 - 77,463,775RGDNCBI36
Celera1776,473,768 - 76,474,551RGD
HuRef1775,271,321 - 75,272,104UniSTS
ALY_7964  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371779,845,522 - 79,846,021UniSTSGRCh37
Build 361777,438,818 - 77,439,317RGDNCBI36
Celera1776,449,375 - 76,449,874RGD
HuRef1775,247,447 - 75,247,946UniSTS
RH65676  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371779,869,960 - 79,870,079UniSTSGRCh37
Build 361777,463,252 - 77,463,371RGDNCBI36
Celera1776,474,028 - 76,474,147RGD
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q25.3UniSTS
HuRef1775,271,581 - 75,271,700UniSTS
GeneMap99-GB4 RH Map17542.1UniSTS
NCBI RH Map17810.0UniSTS
D17S723  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371779,852,877 - 79,852,975UniSTSGRCh37
GRCh37631,663,473 - 31,663,543UniSTSGRCh37
Build 36631,771,452 - 31,771,522RGDNCBI36
Celera633,261,696 - 33,261,766RGD
Celera1776,456,889 - 76,456,987UniSTS
Cytogenetic Map17q25.3UniSTS
HuRef1775,254,560 - 75,254,658UniSTS
HuRef631,449,705 - 31,449,775UniSTS
RH44900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371779,862,050 - 79,862,165UniSTSGRCh37
Build 361777,455,342 - 77,455,457RGDNCBI36
Celera1776,466,057 - 76,466,172RGD
Cytogenetic Map17q25.3UniSTS
HuRef1775,263,730 - 75,263,845UniSTS
GeneMap99-GB4 RH Map17542.1UniSTS
NCBI RH Map17810.0UniSTS
RH65274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371779,857,857 - 79,857,981UniSTSGRCh37
Build 361777,451,149 - 77,451,273RGDNCBI36
Celera1776,461,866 - 76,461,990RGD
Cytogenetic Map17q25.3UniSTS
HuRef1775,259,537 - 75,259,661UniSTS
GeneMap99-GB4 RH Map17542.1UniSTS
NCBI RH Map17810.0UniSTS
UniSTS:481341  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371779,860,154 - 79,860,624UniSTSGRCh37
Build 361777,453,446 - 77,453,916RGDNCBI36
Celera1776,464,161 - 76,464,631RGD
HuRef1775,261,834 - 75,262,304UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1176
Count of miRNA genes:647
Interacting mature miRNAs:738
Transcripts:ENST00000331204, ENST00000504015, ENST00000505490, ENST00000511412, ENST00000512673
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.


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 3
Medium 2430 2845 1664 565 1896 407 4354 2108 3442 408 1443 1606 171 1204 2787 4
Low 3 140 59 57 53 57 1 85 266 10 4 2 1 1
Below cutoff 3 1 1 2 4 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000504015
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,888,341 - 81,888,987 (-)Ensembl
RefSeq Acc Id: ENST00000505490   ⟹   ENSP00000421592
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,887,835 - 81,891,586 (-)Ensembl
RefSeq Acc Id: ENST00000511412
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,889,301 - 81,891,005 (-)Ensembl
RefSeq Acc Id: ENST00000512673
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1781,888,901 - 81,891,394 (-)Ensembl
RefSeq Acc Id: NM_005782   ⟹   NP_005773
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381781,887,835 - 81,891,586 (-)NCBI
GRCh371779,845,711 - 79,849,464 (-)NCBI
Build 361777,439,016 - 77,442,758 (-)NCBI Archive
HuRef1775,247,636 - 75,251,146 (-)NCBI
CHM1_11779,931,915 - 79,935,666 (-)NCBI
Sequence:
RefSeq Acc Id: NR_158770
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381781,887,835 - 81,891,587 (-)NCBI
Protein Sequences
Protein RefSeqs NP_005773 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD09608 (Get FASTA)   NCBI Sequence Viewer  
  AAH52302 (Get FASTA)   NCBI Sequence Viewer  
  EAW89699 (Get FASTA)   NCBI Sequence Viewer  
  Q86V81 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_005773   ⟸   NM_005782
- UniProtKB: Q86V81 (UniProtKB/Swiss-Prot),   E9PB61 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000421592   ⟸   ENST00000505490
Protein Domains
RRM

Promoters
RGD ID:6793752
Promoter ID:HG_KWN:27384
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001002244,   NM_001002245,   NM_001002246,   NM_001002247,   NM_001002248,   NM_001002249,   NM_005782,   NM_016476,   UC002KCB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361777,442,256 - 77,443,307 (+)MPROMDB
RGD ID:7236671
Promoter ID:EPDNEW_H24080
Type:initiation region
Name:ALYREF_1
Description:Aly/REF export factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381781,891,586 - 81,891,646EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3 copy number gain See cases [RCV000050934] Chr17:78901959..83086677 [GRCh38]
Chr17:76898041..81044553 [GRCh37]
Chr17:74409636..78637842 [NCBI36]
Chr17:17q25.3
pathogenic
GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3 copy number gain See cases [RCV000050685] Chr17:78092236..83086677 [GRCh38]
Chr17:76088317..81044553 [GRCh37]
Chr17:73599912..78637842 [NCBI36]
Chr17:17q25.3
pathogenic
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3 copy number gain See cases [RCV000052497] Chr17:78918650..83021095 [GRCh38]
Chr17:76914732..80978971 [GRCh37]
Chr17:74426327..78572260 [NCBI36]
Chr17:17q25.3
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh38/hg38 17q25.3(chr17:80328106-83086677)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053454]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053454]|See cases [RCV000053454] Chr17:80328106..83086677 [GRCh38]
Chr17:78301906..81044553 [GRCh37]
Chr17:75916501..78637842 [NCBI36]
Chr17:17q25.3
pathogenic
GRCh38/hg38 17q25.3(chr17:81885863-82358856)x3 copy number gain See cases [RCV000054049] Chr17:81885863..82358856 [GRCh38]
Chr17:79843739..80316732 [GRCh37]
Chr17:77437035..77910021 [NCBI36]
Chr17:17q25.3
uncertain significance
GRCh38/hg38 17q25.3(chr17:81871533-81891511)x4 copy number gain See cases [RCV000134475] Chr17:81871533..81891511 [GRCh38]
Chr17:79829409..79849387 [GRCh37]
Chr17:77422698..77442683 [NCBI36]
Chr17:17q25.3
benign
GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3 copy number gain See cases [RCV000138688] Chr17:81008196..83102584 [GRCh38]
Chr17:78981996..81048189 [GRCh37]
Chr17:76596591..78653749 [NCBI36]
Chr17:17q25.3
pathogenic
GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1 copy number loss See cases [RCV000142007] Chr17:81401966..83084062 [GRCh38]
Chr17:79375766..81041938 [GRCh37]
Chr17:76990361..78635227 [NCBI36]
Chr17:17q25.3
likely pathogenic
GRCh38/hg38 17q25.3(chr17:81859688-82017612)x1 copy number loss See cases [RCV000142607] Chr17:81859688..82017612 [GRCh38]
Chr17:79817564..79975488 [GRCh37]
Chr17:77410853..77568777 [NCBI36]
Chr17:17q25.3
benign
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
GRCh37/hg19 17q25.3(chr17:78514452-81041938)x1 copy number loss See cases [RCV000449416] Chr17:78514452..81041938 [GRCh37]
Chr17:17q25.3
pathogenic
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000447539] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000510919] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3 copy number gain not provided [RCV000683965] Chr17:76552611..81041938 [GRCh37]
Chr17:17q25.3
likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q25.3(chr17:79819954-79985284)x3 copy number gain not provided [RCV000752230] Chr17:79819954..79985284 [GRCh37]
Chr17:17q25.3
benign
GRCh37/hg19 17q25.3(chr17:79819954-79986312)x3 copy number gain not provided [RCV000752231] Chr17:79819954..79986312 [GRCh37]
Chr17:17q25.3
benign
GRCh37/hg19 17q25.3(chr17:79819954-80059487)x3 copy number gain not provided [RCV000752232] Chr17:79819954..80059487 [GRCh37]
Chr17:17q25.3
benign
GRCh37/hg19 17q25.3(chr17:79828248-81057996)x1 copy number loss not provided [RCV000752233] Chr17:79828248..81057996 [GRCh37]
Chr17:17q25.3
pathogenic
GRCh37/hg19 17q25.3(chr17:79663313-80197463)x3 copy number gain not provided [RCV000848219] Chr17:79663313..80197463 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3 copy number gain not provided [RCV000848418] Chr17:78608912..81041938 [GRCh37]
Chr17:17q25.3
pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19071 AgrOrtholog
COSMIC ALYREF COSMIC
Ensembl Genes ENSG00000183684 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000331817 UniProtKB/Swiss-Prot
  ENSP00000421592 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000331204 UniProtKB/Swiss-Prot
  ENST00000505490 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000183684 GTEx
HGNC ID HGNC:19071 ENTREZGENE
Human Proteome Map ALYREF Human Proteome Map
InterPro FoP_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10189 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10189 ENTREZGENE
OMIM 604171 OMIM
Pfam FoP_duplication UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134925107 PharmGKB
PROSITE RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FoP_duplication UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.534385 ENTREZGENE
UniProt E9PB61 ENTREZGENE, UniProtKB/TrEMBL
  Q86V81 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary O43672 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-12-20 ALYREF  Aly/REF export factor  THOC4  THO complex 4  Symbol and/or name change 5135510 APPROVED
2011-08-16 THOC4  THO complex 4  THOC4  THO complex 4  Symbol and/or name change 5135510 APPROVED