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] See more...

Aliases for KANSL1 Gene

Aliases for KANSL1 Gene

  • KAT8 Regulatory NSL Complex Subunit 1 2 3 4 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
  • NSL1 3 4
  • Male-Specific Lethal 1 Homolog 3
  • MSL1v1 3
  • MSL1V1 4
  • 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 Chromatin organization and Pathways Affected in Adenoid Cystic Carcinoma. Gene Ontology (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 Summary 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

Additional gene information for KANSL1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KANSL1 Gene

Genomics for KANSL1 Gene

GeneHancer (GH) Regulatory Elements for KANSL1 Gene

Promoters and enhancers for KANSL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KANSL1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KANSL1

Genomic Locations for KANSL1 Gene

Genomic Locations for KANSL1 Gene
chr17:46,029,916-46,225,389
(GRCh38/hg38)
Size:
195,474 bases
Orientation:
Minus strand
chr17:44,107,282-44,302,740
(GRCh37/hg19)
Size:
195,459 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
    • B3KT49
    • I3L4J3
    • 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.
    Miscellaneous:
    • [Isoform 2]: May be due to an intron retention.
    SequenceCaution:
    • Sequence=CAH10565.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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

Gene Families for KANSL1 Gene

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

Protein Domains for KANSL1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KANSL1 Gene

GenScript: Design optimal peptide antigens:
  • MLL1/MLL complex subunit KIAA1267 (K1267_HUMAN)
genes like me logo Genes that share domains with KANSL1: view

No data available for Graphical View of Domain Structure 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.

Phenotypes From GWAS Catalog for KANSL1 Gene

Gene Ontology (GO) - Molecular Function for KANSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15960975
GO:0035035 histone acetyltransferase binding IBA 21873635
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 Models for KANSL1 Gene

MGI Knock Outs for KANSL1:
  • Kansl1 Kansl1<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for KANSL1 Gene

miRTarBase miRNAs that target KANSL1

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
plasma membrane 1
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

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:0006325 chromatin organization 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

Drugs & Compounds for KANSL1 Gene

No Compound Related Data Available

Transcripts for KANSL1 Gene

mRNA/cDNA for KANSL1 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
36 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for KANSL1 Gene

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



Protein tissue co-expression partners for KANSL1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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

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 31 30
  • 99.67 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KANSL1 31 30
  • 93.44 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KANSL1 31 30
  • 91.98 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Kansl1 17 31 30
  • 90.52 (n)
rat
(Rattus norvegicus)
Mammalia Kansl1 30
  • 88.72 (n)
oppossum
(Monodelphis domestica)
Mammalia KANSL1 31
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KANSL1 31
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves KANSL1 31 30
  • 74.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KANSL1 31
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485168 30
  • 54.89 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2848 30
zebrafish
(Danio rerio)
Actinopterygii LOC567884 30
  • 55.48 (n)
kansl1b 31
  • 43 (a)
OneToMany
kansl1a 31
  • 39 (a)
OneToMany
KANSL1 (1 of 3) 31
  • 28 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta wah 31
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KANSL1: view image

Paralogs for KANSL1 Gene

Paralogs for KANSL1 Gene

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

  • KANL1_HUMAN
  • I3L233_HUMAN
  • I3L243_HUMAN
  • I3L4J3_HUMAN

Pseudogenes.org Pseudogenes for KANSL1 Gene

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

Variants for KANSL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KANSL1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
567132 Uncertain Significance: Koolen-de Vries syndrome 46,039,796(-) T/A MISSENSE_VARIANT
569910 Uncertain Significance: Koolen-de Vries syndrome 46,050,604(-) T/C MISSENSE_VARIANT
577223 Uncertain Significance: Koolen-de Vries syndrome 46,066,533(-) C/T INTRON_VARIANT
578019 Uncertain Significance: Koolen-de Vries syndrome 46,050,683(-) G/A MISSENSE_VARIANT
578775 Uncertain Significance: Koolen-de Vries syndrome 46,171,756(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for KANSL1 Gene

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
koolen-de vries syndrome
  • kdvs
koolen-de vries syndrome due to a point mutation
syndromic intellectual disability
chromosome 17q21.31 duplication syndrome
  • 17q21.31 microduplication syndrome
christianson syndrome
  • mental retardation, x-linked, syndromic, christianson type
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

KANL1_HUMAN
  • Koolen-De Vries syndrome (KDVS) [MIM:610443]: An autosomal dominant, multisystem disorder characterized by hypotonia, developmental delay, moderate to severe intellectual disability, and distinctive dysmorphic features including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. Expressive language development is particularly impaired compared with receptive language or motor skills. Additional features include social and friendly behavior, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies. {ECO:0000269 PubMed:22544363, ECO:0000269 PubMed:22544367, ECO:0000269 PubMed:26424144}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KANSL1

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

No data available for 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 research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 54
  2. Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. (PMID: 26424144) Zollino M … Zackai E (Journal of medical genetics 2015) 3 4 54
  3. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. (PMID: 22544363) Koolen DA … de Vries BB (Nature genetics 2012) 3 4 54
  4. Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. (PMID: 22544367) Zollino M … Marangi G (Nature genetics 2012) 3 4 54
  5. Structural basis for MOF and MSL3 recruitment into the dosage compensation complex by MSL1. (PMID: 21217699) Kadlec J … Akhtar A (Nature structural & molecular biology 2011) 3 4 54

Products for KANSL1 Gene