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Aliases for SRCAP Gene

Aliases for SRCAP Gene

  • Snf2 Related CREBBP Activator Protein 2 3 5
  • Domino Homolog 2 3 4
  • Swi2/Snf2-Related ATPase Homolog, Domino Homolog 1 3
  • Swi2/Snf2-Related ATPase Homolog (S. Cerevisiae) 2
  • Snf2-Related CREBBP Activator Protein 2
  • Snf2-Related CBP Activator Protein 3
  • Domino Homolog 1 (Drosophila) 2
  • Snf2-Related CBP Activator 4
  • Helicase SRCAP 3
  • EC 3.6.4.- 4
  • KIAA0309 4
  • EC 3.6.1 58
  • DOMO1 3
  • EAF1 3
  • FLHS 3
  • SWR1 3

External Ids for SRCAP Gene

Previous GeneCards Identifiers for SRCAP Gene

  • GC16P030002
  • GC16P031203
  • GC16P030715
  • GC16P030754
  • GC16P030748
  • GC16P030622
  • GC16P030710
  • GC16P028273

Summaries for SRCAP Gene

Entrez Gene Summary for SRCAP Gene

  • This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012]

GeneCards Summary for SRCAP Gene

SRCAP (Snf2 Related CREBBP Activator Protein) is a Protein Coding gene. Diseases associated with SRCAP include Floating-Harbor Syndrome and Chromosome 16P13.3 Deletion Syndrome, Proximal. Among its related pathways are Pathways Affected in Adenoid Cystic Carcinoma. GO annotations related to this gene include transcription coactivator activity and histone acetyltransferase activity. An important paralog of this gene is ENSG00000282034.

UniProtKB/Swiss-Prot for SRCAP Gene

  • Catalytic component of the SRCAP complex which mediates the ATP-dependent exchange of histone H2AZ/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling. Acts as a coactivator for CREB-mediated transcription, steroid receptor-mediated transcription, and Notch-mediated transcription.

Gene Wiki entry for SRCAP Gene

Additional gene information for SRCAP Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SRCAP Gene

Genomics for SRCAP Gene

Regulatory Elements for SRCAP Gene

Enhancers for SRCAP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H030566 2.1 FANTOM5 Ensembl ENCODE dbSUPER 173.6 -128.3 -128335 6 ZFP64 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 SP3 NFYC ZC3H11A SETD1A SRCAP ENSG00000260267 ZNF747 NPIPB13 INO80E ZNF764 C16orf58 SMG1P5 SMG1P2
GH16H030052 1.4 ENCODE dbSUPER 188.1 -644.0 -644005 3 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 ZC3H11A SETD1A SRCAP INO80E NPIPB12 ZNF747 ZNF764 SMG1P5 SMG1P2 NPIPB13 BCL7C
GH16H030367 2 FANTOM5 Ensembl ENCODE dbSUPER 97.1 -322.2 -322177 17 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D ZNF610 GLIS1 SETD1A SRCAP INO80E NPIPB12 SMG1P5 SMG1P2 ZNF764 RNF40 ZNF747 ENSG00000260304
GH16H029942 1.7 FANTOM5 Ensembl ENCODE 74.1 -754.2 -754227 3 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 ZBTB7B ZNF766 INO80E SRCAP ENSG00000260853 NPIPB12 SPNS1 NFATC2IP ENSG00000260367 ZNF785 SMG1P5 SMG1P2
GH16H030956 1.4 ENCODE dbSUPER 79.6 +259.7 259683 3 FEZF1 DMAP1 YY1 ZNF143 ZNF548 SP3 NFYC MEF2D SSRP1 ZNF610 SETD1A SRCAP INO80E ENSG00000260267 ZNF764 ZNF747 SMG1P5 ENSG00000260304 BCL7C KAT8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SRCAP on UCSC Golden Path with GeneCards custom track

Promoters for SRCAP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000085236 591 2001 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZFP41 SSRP1

Genomic Location for SRCAP Gene

Chromosome:
16
Start:
30,698,209 bp from pter
End:
30,741,409 bp from pter
Size:
43,201 bases
Orientation:
Plus strand

Genomic View for SRCAP Gene

Genes around SRCAP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRCAP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRCAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRCAP Gene

Proteins for SRCAP Gene

  • Protein details for SRCAP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZRS2-SRCAP_HUMAN
    Recommended name:
    Helicase SRCAP
    Protein Accession:
    Q6ZRS2
    Secondary Accessions:
    • B0JZA6
    • O15026
    • Q7Z744
    • Q9Y5L9

    Protein attributes for SRCAP Gene

    Size:
    3230 amino acids
    Molecular mass:
    343555 Da
    Quaternary structure:
    • Interacts with CREBBP and EP300. May be part of a complex containing SRCAP, CREBBP, CARM1 and GRIP1. Component of the chromatin-remodeling SRCAP complex composed of at least SRCAP, DMAP1, RUVBL1, RUVBL2, ACTL6A, YEATS4, VPS72, ACTR6 and ZNHIT1. Component of a NuA4-related complex which contains EP400, TRRAP/PAF400, SRCAP, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, actin, ACTL6A/BAF53A, VPS72 and YEATS4/GAS41. Interacts with hepatitis C virus (HCV) NS5A and human adenovirus 2 DBP.
    SequenceCaution:
    • Sequence=AAI59100.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SRCAP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SRCAP Gene

Selected DME Specific Peptides for SRCAP Gene

Q6ZRS2:
  • DEMGLGKT
  • NLTGADTV
  • RKVCNHP
  • TGTPLQN
  • HRIGQTRDVHIYR
  • GHRVLIF
  • MGLGKTIQ
  • FYDSDWNP
  • HLIIVPTSV
  • RCHRIGQ
  • NGILADE
  • LHKVLRP

Post-translational modifications for SRCAP Gene

  • Ubiquitination at posLast=752752
  • Glycosylation at Ser2416
  • Modification sites at PhosphoSitePlus

Other Protein References for SRCAP Gene

Domains & Families for SRCAP Gene

Gene Families for SRCAP Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for SRCAP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZRS2

UniProtKB/Swiss-Prot:

SRCAP_HUMAN :
  • Belongs to the SNF2/RAD54 helicase family. SWR1 subfamily.
Family:
  • Belongs to the SNF2/RAD54 helicase family. SWR1 subfamily.
genes like me logo Genes that share domains with SRCAP: view

Function for SRCAP Gene

Molecular function for SRCAP Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=66 uM for ATP {ECO:0000269 PubMed:10347196};
UniProtKB/Swiss-Prot Function:
Catalytic component of the SRCAP complex which mediates the ATP-dependent exchange of histone H2AZ/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling. Acts as a coactivator for CREB-mediated transcription, steroid receptor-mediated transcription, and Notch-mediated transcription.

Enzyme Numbers (IUBMB) for SRCAP Gene

Phenotypes From GWAS Catalog for SRCAP Gene

Gene Ontology (GO) - Molecular Function for SRCAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003713 transcription coactivator activity TAS 10347196
GO:0004386 helicase activity IEA --
GO:0004402 histone acetyltransferase activity TAS 10347196
GO:0005515 protein binding IPI 10702287
genes like me logo Genes that share ontologies with SRCAP: view
genes like me logo Genes that share phenotypes with SRCAP: view

Human Phenotype Ontology for SRCAP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for SRCAP Gene

miRTarBase miRNAs that target SRCAP

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SRCAP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for SRCAP Gene

Localization for SRCAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for SRCAP Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SRCAP gene
Compartment Confidence
nucleus 5
golgi apparatus 5
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SRCAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 10702287
GO:0005654 nucleoplasm IDA --
GO:0005794 Golgi apparatus IDA --
GO:0016604 nuclear body IDA --
GO:0043234 protein complex IDA 14966270
genes like me logo Genes that share ontologies with SRCAP: view

Pathways & Interactions for SRCAP Gene

genes like me logo Genes that share pathways with SRCAP: view

Pathways by source for SRCAP Gene

1 BioSystems pathway for SRCAP Gene

Gene Ontology (GO) - Biological Process for SRCAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 10347196
GO:0016032 viral process IEA --
GO:0016569 covalent chromatin modification IEA --
genes like me logo Genes that share ontologies with SRCAP: view

No data available for SIGNOR curated interactions for SRCAP Gene

Drugs & Compounds for SRCAP Gene

No Compound Related Data Available

Transcripts for SRCAP Gene

Unigene Clusters for SRCAP Gene

Snf2-related CREBBP activator protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SRCAP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SRCAP Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1:
SP2: -
SP3:
SP4:
SP5: -
SP6:

ExUns: 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:

Relevant External Links for SRCAP Gene

GeneLoc Exon Structure for
SRCAP
ECgene alternative splicing isoforms for
SRCAP

Expression for SRCAP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SRCAP Gene

Protein differential expression in normal tissues from HIPED for SRCAP Gene

This gene is overexpressed in Ovary (16.3), Peripheral blood mononuclear cells (13.9), Blymphocyte (8.5), and Lung (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SRCAP Gene



Protein tissue co-expression partners for SRCAP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SRCAP Gene:

SRCAP

SOURCE GeneReport for Unigene cluster for SRCAP Gene:

Hs.620916

Evidence on tissue expression from TISSUES for SRCAP Gene

  • Nervous system(4.7)
  • Eye(3.1)
  • Intestine(2.5)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SRCAP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • pelvis
  • rectum
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with SRCAP: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SRCAP Gene

Orthologs for SRCAP Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SRCAP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SRCAP 34 33
  • 99.35 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SRCAP 34 33
  • 91.02 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 88 (a)
OneToMany
-- 34
  • 55 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Srcap 16 34 34 33
  • 87.43 (n)
dog
(Canis familiaris)
Mammalia SRCAP 34 33
  • 87.25 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Srcap 33
  • 85.21 (n)
oppossum
(Monodelphis domestica)
Mammalia SRCAP 34
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SRCAP 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15976 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15109 33
zebrafish
(Danio rerio)
Actinopterygii srcap 34
  • 33 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta dom 35 34
  • 71 (a)
worm
(Caenorhabditis elegans)
Secernentea Y111B2A.23 35
  • 53 (a)
ssl-1 34
  • 26 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SWR1 34 36
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10052 33
Species where no ortholog for SRCAP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SRCAP Gene

ENSEMBL:
Gene Tree for SRCAP (if available)
TreeFam:
Gene Tree for SRCAP (if available)

Paralogs for SRCAP Gene

Paralogs for SRCAP Gene

(3) SIMAP similar genes for SRCAP Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SRCAP: view

Variants for SRCAP Gene

Sequence variations from dbSNP and Humsavar for SRCAP Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs199469464 Pathogenic 30,737,370(+) GGCCT(C/T)GACCC reference, stop-gained
rs199469465 Pathogenic 30,737,343(+) GGGAG(C/T)GAGTT reference, stop-gained
rs199469466 Pathogenic 30,737,589(+) CAGCC(-/C)AAACC reference, frameshift-variant
rs587776938 Pathogenic 30,737,903(+) AAGAG(-/G)CAGGA reference, frameshift-variant
rs587777656 Pathogenic 30,736,616(+) TCAAA(C/T)AGGCA reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for SRCAP Gene

Variant ID Type Subtype PubMed ID
esv33681 CNV loss 17666407
nsv1785 CNV insertion 18451855
nsv469724 CNV loss 16826518
nsv833188 CNV loss 17160897

Variation tolerance for SRCAP Gene

Residual Variation Intolerance Score: 0.229% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.36; 63.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SRCAP Gene

Human Gene Mutation Database (HGMD)
SRCAP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SRCAP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SRCAP Gene

Disorders for SRCAP Gene

MalaCards: The human disease database

(5) MalaCards diseases for SRCAP Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
floating-harbor syndrome
  • fhs
chromosome 16p13.3 deletion syndrome, proximal
  • rubinstein-taybi syndrome
tethered spinal cord syndrome
  • spinal dysraphism
3-m syndrome 1
  • 3-m syndrome
hepatitis c virus
  • hepatitis c virus, response to therapy of
- elite association - COSMIC cancer census association via MalaCards
Search SRCAP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SRCAP_HUMAN
  • Floating-Harbor syndrome (FLHS) [MIM:136140]: A rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips. {ECO:0000269 PubMed:22265015}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SRCAP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SRCAP
genes like me logo Genes that share disorders with SRCAP: view

No data available for Genatlas for SRCAP Gene

Publications for SRCAP Gene

  1. Identification of a novel SNF2/SWI2 protein family member, SRCAP, which interacts with CREB-binding protein. (PMID: 10347196) Johnston H … Chrivia J (The Journal of biological chemistry 1999) 2 3 4 22 60
  2. SNF2-related CBP activator protein (SRCAP) functions as a coactivator of steroid receptor-mediated transcription through synergistic interactions with CARM-1 and GRIP-1. (PMID: 14500758) Monroy MA … Chrivia JC (Molecular endocrinology (Baltimore, Md.) 2003) 3 4 22 60
  3. Adenovirus DNA binding protein interacts with the SNF2-related CBP activator protein (SrCap) and inhibits SrCap-mediated transcription. (PMID: 11581372) Xu X … Yaciuk P (Journal of virology 2001) 3 4 22 60
  4. The human SRCAP chromatin remodeling complex promotes DNA-end resection. (PMID: 25176633) Dong S … Huang J (Current biology : CB 2014) 2 3 60
  5. Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. (PMID: 22265015) Hood RL … Boycott KM (American journal of human genetics 2012) 3 4 60

Products for SRCAP Gene

Sources for SRCAP Gene

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