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Aliases for KANSL1 Gene

Aliases for KANSL1 Gene

  • KAT8 Regulatory NSL Complex Subunit 1 2 3 5
  • KIAA1267 2 3 4
  • MLL1/MLL Complex Subunit KANSL1 3 4
  • Non-Specific Lethal 1 Homolog 3 4
  • NSL Complex Protein NSL1 3 4
  • Centromere Protein 36 2 3
  • MSL1 Homolog 1 3 4
  • CENP-36 3 4
  • HMSL1v1 3 4
  • MSL1v1 3 4
  • NSL1 3 4
  • Male-Specific Lethal 1 Homolog 3
  • KDVS 3

External Ids for KANSL1 Gene

Previous HGNC Symbols for KANSL1 Gene

  • KIAA1267

Previous GeneCards Identifiers for KANSL1 Gene

  • GC17M044108

Summaries for KANSL1 Gene

Entrez Gene Summary for KANSL1 Gene

  • This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012]

GeneCards Summary for KANSL1 Gene

KANSL1 (KAT8 Regulatory NSL Complex Subunit 1) is a Protein Coding gene. Diseases associated with KANSL1 include Koolen-De Vries Syndrome and Koolen-De Vries Syndrome Due To A Point Mutation. Among its related pathways are Pathways Affected in Adenoid Cystic Carcinoma and Chromatin organization. GO annotations related to this gene include histone acetyltransferase activity (H4-K5 specific) and histone acetyltransferase activity (H4-K16 specific). An important paralog of this gene is KANSL1L.

UniProtKB/Swiss-Prot for KANSL1 Gene

  • As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription.

Gene Wiki entry for KANSL1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KANSL1 Gene

Genomics for KANSL1 Gene

Regulatory Elements for KANSL1 Gene

Enhancers for KANSL1 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
GH17G047069 1.5 Ensembl ENCODE 48 -845.8 -845815 4.4 CREB3L1 MLX AGO1 ZFP64 DMAP1 YBX1 FEZF1 YY1 SLC30A9 ZNF143 ARL17B MRPL45P2 KANSL1 LOC101927060 CDC27 ENSG00000266601 LRRC37A17P ENSG00000264701 RPS2P47 ENSG00000253347
GH17G046263 1.8 FANTOM5 Ensembl ENCODE 38 -40.5 -40536 4.5 CREB3L1 ZFP64 YBX1 DMAP1 YY1 ZNF143 SP3 NFYC TBX21 MEF2D LRRC37A4P LINC02210 ARL17B KANSL1 ENSG00000262372 RPS7P11 KANSL1-AS1 NSFP1 MAPK8IP1P1 RPS2P47
GH17G046189 1.8 FANTOM5 ENCODE dbSUPER 29.2 +31.8 31817 7.6 CREB3L1 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 SP3 TBX21 LINC02210 LRRC37A4P KANSL1 ARL17B ENSG00000262372 LRRC37A2 KANSL1-AS1 NSFP1 RPS7P11 LRRC37A17P
GH17G046741 1.3 Ensembl ENCODE 39.7 -517.3 -517330 2.6 ARNT ZFP64 SIN3A FEZF1 ZNF2 FOS SP3 JUNB REST ZNF592 ARL17B MRPL45P2 KANSL1-AS1 ENSG00000253347 ENSG00000262372 RPS7P11 LRRC37A17P KANSL1 NSFP1 RPS2P47
GH17G046043 1.2 ENCODE dbSUPER 41.7 +180.9 180871 1.1 HDAC1 ELF3 RB1 ARID4B SIN3A FEZF1 ZSCAN9 RAD21 RFX5 YY1 LINC02210 KANSL1 KANSL1-AS1 STH PIR51062
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KANSL1 on UCSC Golden Path with GeneCards custom track

Promoters for KANSL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000095042 289 1801 HDGF PKNOX1 ATF1 SIN3A ZNF48 GLIS2 ZNF143 FOS SP3 NFYC

Genomic Location for KANSL1 Gene

Chromosome:
17
Start:
46,029,916 bp from pter
End:
46,225,389 bp from pter
Size:
195,474 bases
Orientation:
Minus strand

Genomic View for KANSL1 Gene

Genes around KANSL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KANSL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KANSL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KANSL1 Gene

Proteins for KANSL1 Gene

  • Protein details for KANSL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z3B3-KANL1_HUMAN
    Recommended name:
    KAT8 regulatory NSL complex subunit 1
    Protein Accession:
    Q7Z3B3
    Secondary Accessions:
    • A8K5E4
    • Q6AW85
    • Q8IYH1
    • Q9BRH0
    • Q9NTE7
    • Q9UFT0
    • Q9ULF3

    Protein attributes for KANSL1 Gene

    Size:
    1105 amino acids
    Molecular mass:
    121025 Da
    Quaternary structure:
    • Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Component of the NSL complex at least composed of MOF/KAT8, KANSL1, KANSL2, KANSL3, MCRS1, PHF20, OGT1/OGT, WDR5 and HCFC1. Interacts with KAT8; the interaction is direct.
    SequenceCaution:
    • Sequence=CAH10565.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KANSL1 Gene

    Alternative splice isoforms for KANSL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KANSL1 Gene

Post-translational modifications for KANSL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KANSL1 Gene

Domains & Families for KANSL1 Gene

Protein Domains for KANSL1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KANSL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KANSL1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for KANSL1 Gene

Function for KANSL1 Gene

Molecular function for KANSL1 Gene

UniProtKB/Swiss-Prot Function:
As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription.

Gene Ontology (GO) - Molecular Function for KANSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15960975
GO:0043995 contributes_to histone acetyltransferase activity (H4-K5 specific) IDA 20018852
GO:0043996 contributes_to histone acetyltransferase activity (H4-K8 specific) IDA 20018852
GO:0046972 contributes_to histone acetyltransferase activity (H4-K16 specific) IDA 20018852
genes like me logo Genes that share ontologies with KANSL1: view
genes like me logo Genes that share phenotypes with KANSL1: view

Human Phenotype Ontology for KANSL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for KANSL1 Gene

miRTarBase miRNAs that target KANSL1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KANSL1 Gene

Localization for KANSL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KANSL1 Gene

Nucleus. Nucleus. Chromosome, centromere, kinetochore.

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 KANSL1 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for KANSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000123 histone acetyltransferase complex IDA 20018852
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 kinetochore IEA --
GO:0000777 condensed chromosome kinetochore IEA --
GO:0005634 nucleus IDA --
genes like me logo Genes that share ontologies with KANSL1: view

Pathways & Interactions for KANSL1 Gene

genes like me logo Genes that share pathways with KANSL1: view

Pathways by source for KANSL1 Gene

1 BioSystems pathway for KANSL1 Gene

Gene Ontology (GO) - Biological Process for KANSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016569 covalent chromatin modification IEA --
GO:0043981 histone H4-K5 acetylation IDA 20018852
GO:0043982 histone H4-K8 acetylation IDA 20018852
GO:0043984 histone H4-K16 acetylation IDA 20018852
genes like me logo Genes that share ontologies with KANSL1: view

No data available for SIGNOR curated interactions for KANSL1 Gene

Transcripts for KANSL1 Gene

Unigene Clusters for KANSL1 Gene

KAT8 regulatory NSL complex subunit 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KANSL1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1: - - - - - -
SP2: - - - - -
SP3: - - - -
SP4:
SP5: - - - - -
SP6: -
SP7:

Relevant External Links for KANSL1 Gene

GeneLoc Exon Structure for
KANSL1
ECgene alternative splicing isoforms for
KANSL1

Expression for KANSL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KANSL1 Gene

Protein differential expression in normal tissues from HIPED for KANSL1 Gene

This gene is overexpressed in Urine (33.3), Peripheral blood mononuclear cells (11.4), CD8 Tcells (9.4), and Heart (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KANSL1 Gene



Protein tissue co-expression partners for KANSL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KANSL1 Gene:

KANSL1

SOURCE GeneReport for Unigene cluster for KANSL1 Gene:

Hs.648744

mRNA Expression by UniProt/SwissProt for KANSL1 Gene:

Q7Z3B3-KANL1_HUMAN
Tissue specificity: Expressed in the brain.

Evidence on tissue expression from TISSUES for KANSL1 Gene

  • Nervous system(4.8)
  • Liver(4.3)
  • Blood(4.1)
  • Muscle(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KANSL1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
  • vocal cord
Thorax:
  • aorta
  • breast
  • heart
  • heart valve
  • lung
Abdomen:
  • kidney
Pelvis:
  • pelvis
  • testicle
  • ureter
  • urethra
  • urinary bladder
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with KANSL1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for KANSL1 Gene

Orthologs for KANSL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KANSL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KANSL1 34 35
  • 99.67 (n)
dog
(Canis familiaris)
Mammalia KANSL1 34 35
  • 93.44 (n)
cow
(Bos Taurus)
Mammalia KANSL1 34 35
  • 91.98 (n)
mouse
(Mus musculus)
Mammalia Kansl1 34 16 35
  • 90.52 (n)
rat
(Rattus norvegicus)
Mammalia Kansl1 34
  • 88.72 (n)
oppossum
(Monodelphis domestica)
Mammalia KANSL1 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KANSL1 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves KANSL1 34 35
  • 74.38 (n)
lizard
(Anolis carolinensis)
Reptilia KANSL1 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485168 34
  • 54.89 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2848 34
zebrafish
(Danio rerio)
Actinopterygii LOC567884 34
  • 55.48 (n)
kansl1b 35
  • 43 (a)
OneToMany
kansl1a 35
  • 39 (a)
OneToMany
KANSL1 (1 of 3) 35
  • 28 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta wah 35
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 18 (a)
OneToMany
Species where no ortholog for KANSL1 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for KANSL1 Gene

ENSEMBL:
Gene Tree for KANSL1 (if available)
TreeFam:
Gene Tree for KANSL1 (if available)

Paralogs for KANSL1 Gene

Paralogs for KANSL1 Gene

(2) SIMAP similar genes for KANSL1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for KANSL1 Gene

genes like me logo Genes that share paralogs with KANSL1: view

Variants for KANSL1 Gene

Sequence variations from dbSNP and Humsavar for KANSL1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1057518182 Pathogenic 46,067,619(-) CTATT(-/ATTG)GTCAT reference, frameshift-variant
rs281865468 Pathogenic 46,171,228(-) GCTTA(C/T)AGGTT upstream-variant-2KB, reference, stop-gained
rs281865469 Pathogenic 46,066,569(-) TTGTT(C/G/T)GACCC reference, missense, stop-gained
rs281865470 Pathogenic 46,067,548(-) AACAC(A/G)TAAGT splice-donor-variant
rs281865471 Pathogenic 46,033,131(-) TGGAG(-/AG)GGCAC reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for KANSL1 Gene

Variant ID Type Subtype PubMed ID
dgv127e55 CNV gain 17911159
dgv128e55 CNV gain 17911159
dgv129e55 CNV loss 17911159
dgv130e55 CNV gain 17911159
dgv131e55 CNV loss 17911159
dgv1765e59 CNV duplication 20981092
dgv24n64 CNV gain 17921354
dgv25n64 CNV gain 17921354
dgv3178n100 CNV gain 25217958
dgv3179n100 CNV gain 25217958
dgv3180n100 CNV gain 25217958
dgv3181n100 CNV gain 25217958
dgv3182n100 CNV gain 25217958
dgv3183n100 CNV gain 25217958
dgv3184n100 CNV gain 25217958
dgv3185n100 CNV gain 25217958
dgv3186n100 CNV gain 25217958
dgv3187n100 CNV gain 25217958
dgv3188n100 CNV gain 25217958
dgv3189n100 CNV gain 25217958
dgv3190n100 CNV gain 25217958
dgv3191n100 CNV gain+loss 25217958
dgv3192n100 CNV loss 25217958
dgv3193n100 CNV gain 25217958
dgv3194n100 CNV loss 25217958
dgv3195n100 CNV gain+loss 25217958
dgv3196n100 CNV gain+loss 25217958
dgv3197n100 CNV gain 25217958
dgv3198n100 CNV loss 25217958
dgv3199n100 CNV loss 25217958
dgv3200n100 CNV loss 25217958
dgv3201n100 CNV gain 25217958
dgv3202n100 CNV gain 25217958
dgv3203n100 CNV gain+loss 25217958
dgv3204n100 CNV gain 25217958
dgv3205n100 CNV loss 25217958
dgv3206n100 CNV loss 25217958
dgv3207n100 CNV loss 25217958
dgv3208n100 CNV loss 25217958
dgv3209n100 CNV gain 25217958
dgv3210n100 CNV loss 25217958
dgv3211n100 CNV loss 25217958
dgv3212n100 CNV loss 25217958
dgv3213n100 CNV gain+loss 25217958
dgv3214n100 CNV gain+loss 25217958
dgv3215n100 CNV loss 25217958
dgv3216n100 CNV loss 25217958
dgv3217n100 CNV loss 25217958
dgv3218n100 CNV gain+loss 25217958
dgv3219n100 CNV gain 25217958
dgv3220n100 CNV gain 25217958
dgv3221n100 CNV gain+loss 25217958
dgv3222n100 CNV loss 25217958
dgv3223n100 CNV gain 25217958
dgv3224n100 CNV loss 25217958
dgv3225n100 CNV loss 25217958
dgv3226n100 CNV gain+loss 25217958
dgv3227n100 CNV gain+loss 25217958
dgv3228n100 CNV loss 25217958
dgv3229n100 CNV loss 25217958
dgv3230n100 CNV loss 25217958
dgv3231n100 CNV gain 25217958
dgv3232n100 CNV loss 25217958
dgv3233n100 CNV gain 25217958
dgv3234n100 CNV gain+loss 25217958
dgv3235n100 CNV loss 25217958
dgv3236n100 CNV loss 25217958
dgv3237n100 CNV loss 25217958
dgv3238n100 CNV gain 25217958
dgv3239n100 CNV gain 25217958
dgv3240n100 CNV gain 25217958
dgv3241n100 CNV loss 25217958
dgv3242n100 CNV gain+loss 25217958
dgv3243n100 CNV gain 25217958
dgv366n27 CNV gain 19166990
dgv367n27 CNV gain 19166990
dgv368n27 CNV gain 19166990
dgv5617n54 CNV gain 21841781
dgv5618n54 CNV gain 21841781
dgv5619n54 CNV gain+loss 21841781
dgv5620n54 CNV gain 21841781
dgv5621n54 CNV gain+loss 21841781
dgv5622n54 CNV loss 21841781
dgv5623n54 CNV loss 21841781
dgv5624n54 CNV loss 21841781
dgv5625n54 CNV loss 21841781
dgv5626n54 CNV loss 21841781
dgv5627n54 CNV loss 21841781
dgv5628n54 CNV loss 21841781
dgv5629n54 CNV loss 21841781
dgv5630n54 CNV gain 21841781
dgv5631n54 CNV loss 21841781
dgv5632n54 CNV loss 21841781
dgv5633n54 CNV loss 21841781
dgv5634n54 CNV loss 21841781
dgv5635n54 CNV loss 21841781
dgv5636n54 CNV loss 21841781
dgv5637n54 CNV gain 21841781
dgv5638n54 CNV gain 21841781
dgv5639n54 CNV gain 21841781
dgv5640n54 CNV loss 21841781
dgv575e214 CNV gain 21293372
dgv576e214 CNV gain 21293372
dgv936e212 CNV loss 25503493
dgv937e212 CNV gain 25503493
dgv938e212 CNV gain 25503493
dgv939e212 CNV gain 25503493
dgv940e212 CNV loss 25503493
dgv941e212 CNV loss 25503493
dgv942e212 CNV loss 25503493
dgv943e212 CNV gain 25503493
dgv944e212 CNV loss 25503493
dgv945e212 CNV loss 25503493
dgv946e212 CNV gain 25503493
esv21783 CNV gain+loss 19812545
esv2422002 CNV duplication 20811451
esv2656635 CNV deletion 23128226
esv2662030 CNV deletion 23128226
esv2665512 CNV deletion 23128226
esv2675570 CNV deletion 23128226
esv2715977 CNV deletion 23290073
esv2751686 CNV gain 17911159
esv2758692 CNV gain+loss 17122850
esv2760451 CNV gain+loss 21179565
esv2762433 CNV gain+loss 21179565
esv29951 CNV gain 18421352
esv29962 CNV loss 17803354
esv33048 CNV gain+loss 17666407
esv3332533 CNV duplication 20981092
esv3336042 CNV duplication 20981092
esv3337358 CNV duplication 20981092
esv3338091 CNV duplication 20981092
esv3349379 CNV duplication 20981092
esv3352396 CNV duplication 20981092
esv3388683 CNV duplication 20981092
esv3396779 CNV duplication 20981092
esv3400637 CNV duplication 20981092
esv3427319 CNV duplication 20981092
esv3431084 CNV duplication 20981092
esv3438014 CNV duplication 20981092
esv3440489 CNV duplication 20981092
esv3446211 CNV duplication 20981092
esv3554480 CNV deletion 23714750
esv3554482 CNV deletion 23714750
esv3573553 CNV gain 25503493
esv3573565 CNV gain 25503493
esv3573587 CNV gain 25503493
esv3582747 CNV loss 25503493
esv3582758 CNV loss 25503493
esv3584940 CNV gain 24956385
esv3640675 CNV gain 21293372
esv3640679 CNV loss 21293372
esv3893020 CNV gain 25118596
esv3893022 CNV gain 25118596
nsv1055347 CNV gain 25217958
nsv1057797 CNV loss 25217958
nsv1057963 CNV gain 25217958
nsv1059448 CNV gain+loss 25217958
nsv1060392 CNV gain+loss 25217958
nsv1062451 CNV gain+loss 25217958
nsv1063349 CNV gain 25217958
nsv1064522 CNV loss 25217958
nsv1065462 CNV gain 25217958
nsv1066278 CNV gain+loss 25217958
nsv1072740 CNV deletion 25765185
nsv1110300 CNV duplication 24896259
nsv1126462 CNV deletion 24896259
nsv1133407 CNV deletion 24896259
nsv1136237 CNV deletion 24896259
nsv1144806 CNV deletion 24896259
nsv1146669 OTHER inversion 26484159
nsv1160492 CNV duplication 26073780
nsv1160493 CNV duplication 26073780
nsv2069 CNV insertion 18451855
nsv433449 CNV gain 18776910
nsv442748 CNV gain 18776908
nsv457748 CNV loss 19166990
nsv469537 CNV gain+loss 16826518
nsv469697 CNV gain+loss 16826518
nsv469705 CNV loss 16826518
nsv470589 CNV gain 18288195
nsv471492 CNV gain 19718026
nsv471698 CNV gain+loss 15918152
nsv472417 CNV novel sequence insertion 20440878
nsv514850 CNV gain 21397061
nsv516807 CNV gain+loss 19592680
nsv575142 CNV loss 21841781
nsv575154 CNV gain 21841781
nsv575160 CNV gain 21841781
nsv575176 CNV loss 21841781
nsv575180 CNV loss 21841781
nsv575202 CNV loss 21841781
nsv575204 CNV gain+loss 21841781
nsv575225 CNV loss 21841781
nsv575228 CNV gain 21841781
nsv575238 CNV gain 21841781
nsv575241 CNV gain 21841781
nsv575246 CNV gain+loss 21841781
nsv575247 CNV loss 21841781
nsv575266 CNV gain 21841781
nsv821687 CNV gain 15273396
nsv833461 CNV gain 17160897
nsv833462 CNV gain 17160897
nsv953910 CNV duplication 24416366
nsv954532 CNV deletion 24416366
nsv955431 CNV deletion 24416366
nsv9564 CNV gain+loss 18304495
nsv960493 CNV duplication 23825009

Variation tolerance for KANSL1 Gene

Residual Variation Intolerance Score: 76.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.71; 97.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KANSL1 Gene

Human Gene Mutation Database (HGMD)
KANSL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KANSL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KANSL1 Gene

Disorders for KANSL1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for KANSL1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
koolen-de vries syndrome
  • koolen de vries syndrome
koolen-de vries syndrome due to a point mutation
kleefstra syndrome
  • 9q subtelomeric deletion syndrome
mental retardation, x-linked syndromic, christianson type
  • mental retardation, x-linked, syndromic, christianson type
mowat-wilson syndrome
  • hirschsprung disease mental retardation syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KANSL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KANSL1
genes like me logo Genes that share disorders with KANSL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KANSL1 Gene

Publications for KANSL1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T. … Ohara O. (DNA Res. 1999) 2 3 4 64
  2. Structural basis for MOF and MSL3 recruitment into the dosage compensation complex by MSL1. (PMID: 21217699) Kadlec J. … Akhtar A. (Nat. Struct. Mol. Biol. 2011) 3 4 64
  3. Subunit composition and substrate specificity of a MOF-containing histone acetyltransferase distinct from the male-specific lethal (MSL) complex. (PMID: 20018852) Cai Y. … Conaway R.C. (J. Biol. Chem. 2010) 3 4 64
  4. Nuclear pore components are involved in the transcriptional regulation of dosage compensation in Drosophila. (PMID: 16543150) Mendjan S. … Akhtar A. (Mol. Cell 2006) 3 4 64
  5. Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF. (PMID: 15960975) Dou Y. … Roeder R.G. (Cell 2005) 3 4 64

Products for KANSL1 Gene

Sources for KANSL1 Gene

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