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Aliases for ANKS1B Gene

Aliases for ANKS1B Gene

  • Ankyrin Repeat And Sterile Alpha Motif Domain Containing 1B 2 3 5
  • AIDA-1 3 4
  • EB-1 3 4
  • Amyloid-Beta Precursor Protein Intracellular Domain Associated Protein 1 3
  • Ankyrin Repeat And Sterile Alpha Motif Domain-Containing Protein 1B 3
  • Amyloid-Beta Protein Intracellular Domain-Associated Protein 1 4
  • E2a-Pbx1-Associated Protein 3
  • E2A-PBX1-Associated Protein 4
  • Cajalin 2 3
  • Cajalin-2 3
  • ANKS2 3
  • AIDA 3
  • EB1 3

External Ids for ANKS1B Gene

Previous GeneCards Identifiers for ANKS1B Gene

  • GC12M097653
  • GC12M099129
  • GC12M096190

Summaries for ANKS1B Gene

Entrez Gene Summary for ANKS1B Gene

  • This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]

GeneCards Summary for ANKS1B Gene

ANKS1B (Ankyrin Repeat And Sterile Alpha Motif Domain Containing 1B) is a Protein Coding gene. Diseases associated with ANKS1B include Acute Lymphocytic Leukemia and Enchondromatosis, Multiple, Ollier Type. Among its related pathways are Ectoderm Differentiation. Gene Ontology (GO) annotations related to this gene include ephrin receptor binding. An important paralog of this gene is ANKS1A.

UniProtKB/Swiss-Prot for ANKS1B Gene

  • Isoform 2 may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells.

  • Isoform 3 can regulate global protein synthesis by altering nucleolar numbers.

  • Isoform 4 may play a role as a modulator of APP processing. Overexpression can down-regulate APP processing.

Gene Wiki entry for ANKS1B Gene

Additional gene information for ANKS1B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKS1B Gene

Genomics for ANKS1B Gene

GeneHancer (GH) Regulatory Elements for ANKS1B Gene

Promoters and enhancers for ANKS1B Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J099984 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 650.7 +0.0 26 1.4 KLF17 MZF1 SIN3A ZNF335 GLIS2 ZNF213 EGR1 SCRT2 EGR2 ZNF263 ANKS1B GC12P099911
GH12J099154 Promoter/Enhancer 1.2 UCNEbase EPDnew Ensembl 650 +830.0 829982 0.6 POLR2A ANKS1B GC12P099152 GC12P099128 GC12M099203
GH12J099680 Promoter 0.5 EPDnew 650.1 +303.9 303930 0.1 ANKS1B FAM71C GC12P099677 GC12M099751
GH12J099959 Enhancer 0.7 ENCODE 16.9 +25.0 24999 0.1 FOXA2 NEUROD1 CEBPG CTBP1 GATA3 FOSL2 FOS SMARCE1 GATAD2A FOXA3 ANKS1B GC12P099911
GH12J100198 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 4.7 -216.4 -216392 4.4 HDGF SMAD1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B E2F8 ACTR6 ENSG00000257489 SCYL2 GOLGA2P5 ANKS1B GC12M100427
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ANKS1B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANKS1B gene promoter:
  • Nkx3-1 v3
  • Nkx3-1 v2
  • Nkx3-1 v1
  • Nkx3-1
  • Nkx3-1 v4
  • Ik-1
  • Meis-1
  • Meis-1a
  • Meis-1b
  • POU6F1 (c2)

Genomic Locations for ANKS1B Gene

Genomic Locations for ANKS1B Gene
1,258,271 bases
Minus strand
1,258,198 bases
Minus strand

Genomic View for ANKS1B Gene

Genes around ANKS1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKS1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKS1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKS1B Gene

Proteins for ANKS1B Gene

  • Protein details for ANKS1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ankyrin repeat and sterile alpha motif domain-containing protein 1B
    Protein Accession:
    Secondary Accessions:
    • A5PKY5
    • A7E259
    • A8K153
    • A8MSN4
    • B4DFP6
    • B4DH98
    • F8VPM3
    • F8VZR9
    • F8WC27
    • Q5XLJ0
    • Q6IVB5
    • Q6NUS4
    • Q7Z6G6
    • Q7Z6G7
    • Q8TAP3
    • Q9NRX7
    • Q9Y5K9

    Protein attributes for ANKS1B Gene

    1248 amino acids
    Molecular mass:
    138066 Da
    Quaternary structure:
    • Isoform 3 interacts with DLG4 (By similarity). Interacts with EPHA8. Isoform 2 interacts with COIL. Isoform 4 interacts with APP and EPHA8. Isoform 6 interacts with EPHA8.
    • Sequence=AAP38184.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ANKS1B Gene

    Alternative splice isoforms for ANKS1B Gene

neXtProt entry for ANKS1B Gene

Post-translational modifications for ANKS1B Gene

  • Isoform 3 nuclear translocation requires an NMDAR-dependent proteolytic cleavage.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKS1B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ANKS1B Gene

Domains & Families for ANKS1B Gene

Gene Families for ANKS1B Gene

Suggested Antigen Peptide Sequences for ANKS1B Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ANKS1B: view

No data available for UniProtKB/Swiss-Prot for ANKS1B Gene

Function for ANKS1B Gene

Molecular function for ANKS1B Gene

UniProtKB/Swiss-Prot Function:
Isoform 2 may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells.
UniProtKB/Swiss-Prot Function:
Isoform 3 can regulate global protein synthesis by altering nucleolar numbers.
UniProtKB/Swiss-Prot Function:
Isoform 4 may play a role as a modulator of APP processing. Overexpression can down-regulate APP processing.
UniProtKB/Swiss-Prot Induction:
Transcriptionally up-regulated in t(1:19) pre-B cell acute lymphocytic leukemia by the chimeric TCF3-PBX1. Not expressed in pre-B cell that lack this translocation.

Phenotypes From GWAS Catalog for ANKS1B Gene

Gene Ontology (GO) - Molecular Function for ANKS1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046875 ephrin receptor binding IPI 17875921
genes like me logo Genes that share ontologies with ANKS1B: view
genes like me logo Genes that share phenotypes with ANKS1B: view

Animal Models for ANKS1B Gene

MGI Knock Outs for ANKS1B:
  • Anks1b Anks1b<tm1a(KOMP)Wtsi>
  • Anks1b Anks1b<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for ANKS1B Gene

miRTarBase miRNAs that target ANKS1B

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKS1B

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ANKS1B Gene

Localization for ANKS1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKS1B Gene

Isoform 2: Nucleus.
Isoform 3: Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell projection, dendritic spine. Nucleus. Nucleus, Cajal body. Note=The synaptic localization requires DLG4 interaction. Translocation to the nucleus in response to stimulation of NMDA receptors (NMDARs) in a calcium-independent manner (By similarity). {ECO:0000250}.
Isoform 4: Nucleus. Note=The interaction with APP causes its partial exclusion from the nucleus, when APP is overexpressed.
Isoform 6: Nucleus.

Subcellular locations from

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 ANKS1B gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 4
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANKS1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
GO:0014069 postsynaptic density IEA --
genes like me logo Genes that share ontologies with ANKS1B: view

Pathways & Interactions for ANKS1B Gene

SuperPathways for ANKS1B Gene

SuperPathway Contained pathways
1 Ectoderm Differentiation
genes like me logo Genes that share pathways with ANKS1B: view

Pathways by source for ANKS1B Gene

1 BioSystems pathway for ANKS1B Gene

Gene Ontology (GO) - Biological Process for ANKS1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:1900383 regulation of synaptic plasticity by receptor localization to synapse IEA --
genes like me logo Genes that share ontologies with ANKS1B: view

No data available for SIGNOR curated interactions for ANKS1B Gene

Drugs & Compounds for ANKS1B Gene

(2) Drugs for ANKS1B Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amisulpride Approved, Investigational Pharma Antagonist Dopamine D2/D3 receptor antagonist 0
calcium Approved Nutra 0
genes like me logo Genes that share compounds with ANKS1B: view

Transcripts for ANKS1B Gene

Unigene Clusters for ANKS1B Gene

Ankyrin repeat and sterile alpha motif domain containing 1B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKS1B

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKS1B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: - - - -
SP2: - - - - - - - - - - - - -
SP4: - - -

ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29
SP1: -
SP2: -

Relevant External Links for ANKS1B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ANKS1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANKS1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANKS1B Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x5.6), Brain - Frontal Cortex (BA9) (x4.6), Brain - Putamen (basal ganglia) (x4.5), Brain - Caudate (basal ganglia) (x4.4), Brain - Hippocampus (x4.3), Brain - Anterior cingulate cortex (BA24) (x4.2), and Brain - Spinal cord (cervical c-1) (x4.2).

Protein differential expression in normal tissues from HIPED for ANKS1B Gene

This gene is overexpressed in Pancreas (33.1), Liver (15.4), Liver, secretome (10.3), and Bone (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANKS1B Gene

Protein tissue co-expression partners for ANKS1B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ANKS1B Gene:


SOURCE GeneReport for Unigene cluster for ANKS1B Gene:


mRNA Expression by UniProt/SwissProt for ANKS1B Gene:

Tissue specificity: Highly expressed in marrow from patients with pre-B ALL associated with the t(1;19) translocation. Strongly expressed in brain and testis. Expressed in fetal brain. Isoform 4 is highly expressed in brain (at protein level). Isoform 6 is expressed in brain and several cancer cell lines.

Evidence on tissue expression from TISSUES for ANKS1B Gene

  • Nervous system(5)
  • Adrenal gland(4.2)
genes like me logo Genes that share expression patterns with ANKS1B: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKS1B Gene

Orthologs for ANKS1B Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKS1B Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ANKS1B 34 33
  • 99.84 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 98 (a)
-- 34
  • 82 (a)
(Canis familiaris)
Mammalia ANKS1B 34 33
  • 93.21 (n)
(Mus musculus)
Mammalia Anks1b 16 34 33
  • 89.76 (n)
(Rattus norvegicus)
Mammalia Anks1b 33
  • 89.25 (n)
(Bos Taurus)
Mammalia ANKS1B 34
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia ANKS1B 34
  • 42 (a)
(Gallus gallus)
Aves ANKS1B 34 33
  • 78.91 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 94 (a)
-- 34
  • 80 (a)
(Danio rerio)
Actinopterygii anks1b 34 33
  • 64.97 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11168 34
  • 31 (a)
CG4393 34
  • 24 (a)
(Caenorhabditis elegans)
Secernentea C11E4.6 34
  • 20 (a)
sea squirt
(Ciona savignyi)
Ascidiacea Cin.13432 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13432 33
Species where no ortholog for ANKS1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ANKS1B Gene

Gene Tree for ANKS1B (if available)
Gene Tree for ANKS1B (if available)
Evolutionary constrained regions (ECRs) for ANKS1B: view image

Paralogs for ANKS1B Gene

Paralogs for ANKS1B Gene

(4) SIMAP similar genes for ANKS1B Gene using alignment to 16 proteins:

  • F5GX70_HUMAN
  • F8VR14_HUMAN
  • H0YI72_HUMAN
  • R4GN07_HUMAN
  • R4GN70_HUMAN
  • R4GN73_HUMAN
  • R4GN78_HUMAN
  • R4GNJ0_HUMAN Pseudogenes for ANKS1B Gene

genes like me logo Genes that share paralogs with ANKS1B: view

Variants for ANKS1B Gene

Sequence variations from dbSNP and Humsavar for ANKS1B Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000000090 -- 98,928,447(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000000621 -- 99,858,513(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000002292 -- 99,264,440(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000004165 -- 98,979,039(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000004655 -- 99,914,536(-) T/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ANKS1B Gene

Variant ID Type Subtype PubMed ID
dgv2817n54 CNV loss 21841781
dgv2818n54 CNV gain+loss 21841781
dgv2819n54 CNV loss 21841781
dgv2820n54 CNV loss 21841781
dgv2821n54 CNV loss 21841781
dgv2822n54 CNV loss 21841781
dgv2823n54 CNV gain 21841781
dgv2824n54 CNV loss 21841781
dgv2825n54 CNV loss 21841781
dgv2826n54 CNV loss 21841781
dgv2827n54 CNV loss 21841781
dgv2828n54 CNV loss 21841781
dgv2829n54 CNV loss 21841781
dgv2830n54 CNV loss 21841781
nsv826499 CNV gain 20364138
nsv832496 CNV gain 17160897
nsv845 CNV deletion 18451855
nsv846 CNV deletion 18451855
nsv847 CNV insertion 18451855
nsv848 CNV deletion 18451855
nsv849 CNV deletion 18451855
nsv850 CNV insertion 18451855
nsv9004 CNV loss 18304495
nsv975525 CNV duplication 23825009
nsv826497 CNV gain 20364138
nsv559993 CNV loss 21841781
nsv559992 CNV loss 21841781
nsv559974 CNV loss 21841781
nsv559964 CNV gain 21841781
nsv559963 CNV loss 21841781
nsv559962 CNV loss 21841781
nsv559961 CNV loss 21841781
nsv559960 CNV loss 21841781
nsv559958 CNV loss 21841781
nsv559956 CNV loss 21841781
nsv559955 CNV loss 21841781
nsv559954 CNV loss 21841781
nsv559953 CNV loss 21841781
nsv559937 CNV loss 21841781
nsv559934 CNV loss 21841781
nsv559933 CNV gain 21841781
nsv559929 CNV gain 21841781
nsv559928 CNV loss 21841781
nsv559924 CNV gain+loss 21841781
nsv559921 CNV loss 21841781
nsv526324 CNV loss 19592680
nsv525970 CNV loss 19592680
nsv519031 CNV loss 19592680
nsv517202 CNV loss 19592680
nsv515574 CNV loss 19592680
nsv514686 CNV loss 21397061
nsv514685 CNV loss 21397061
nsv514684 CNV loss 21397061
nsv510314 OTHER sequence alteration 20534489
nsv478563 CNV novel sequence insertion 20440878
nsv474418 CNV novel sequence insertion 20440878
nsv470314 CNV loss 18288195
nsv455699 CNV loss 19166990
nsv442655 CNV loss 18776908
nsv438232 CNV loss 16468122
nsv437154 CNV loss 16327808
nsv1160059 CNV deletion 26073780
nsv1145618 CNV deletion 24896259
nsv1127285 CNV deletion 24896259
nsv1121851 CNV deletion 24896259
nsv1119978 CNV deletion 24896259
nsv1113512 CNV deletion 24896259
nsv1054914 CNV loss 25217958
nsv1051515 CNV gain 25217958
nsv1050331 CNV gain 25217958
nsv1049617 CNV loss 25217958
nsv1045504 CNV loss 25217958
nsv1043058 CNV loss 25217958
nsv1043049 CNV loss 25217958
nsv1038200 CNV loss 25217958
esv999514 CNV insertion 20482838
esv9366 CNV loss 19470904
esv3892255 CNV loss 25118596
esv3892254 CNV loss 25118596
esv3892253 CNV loss 25118596
esv3892252 CNV loss 25118596
esv3652 CNV loss 18987735
esv3630542 CNV loss 21293372
esv3630541 CNV gain 21293372
esv3630539 CNV loss 21293372
esv3630537 CNV loss 21293372
esv3630536 CNV loss 21293372
esv3630535 CNV loss 21293372
esv3630534 CNV loss 21293372
esv3630533 CNV loss 21293372
esv3630531 CNV loss 21293372
esv3630530 CNV loss 21293372
esv3630528 CNV loss 21293372
esv3630527 CNV loss 21293372
esv3630526 CNV loss 21293372
esv3630522 CNV gain 21293372
esv3630515 CNV loss 21293372
esv3580422 CNV loss 25503493
esv3580421 CNV loss 25503493
esv3580420 CNV loss 25503493
esv3580406 CNV loss 25503493
esv3580399 CNV loss 25503493
esv3580395 CNV loss 25503493
esv3580392 CNV loss 25503493
esv3549670 CNV deletion 23714750
esv3549669 CNV deletion 23714750
esv3549668 CNV deletion 23714750
esv3549667 CNV deletion 23714750
esv3445504 CNV insertion 20981092
esv3440979 CNV insertion 20981092
esv3398103 CNV insertion 20981092
esv3391324 CNV insertion 20981092
esv3362367 CNV insertion 20981092
esv33474 CNV gain 17666407
esv3341986 CNV insertion 20981092
esv3303292 CNV mobile element insertion 20981092
esv32717 CNV gain 17666407
esv29542 CNV loss 19812545
esv2761764 CNV loss 21179565
esv2760988 CNV gain+loss 21179565
esv2760877 CNV loss 21179565
esv2760272 CNV loss 21179565
esv2760257 CNV loss 21179565
esv2746273 CNV deletion 23290073
esv2746272 CNV deletion 23290073
esv2746271 CNV deletion 23290073
esv2746270 CNV deletion 23290073
esv2746269 CNV deletion 23290073
esv2746268 CNV deletion 23290073
esv2672495 CNV deletion 23128226
esv2672155 CNV deletion 23128226
esv2668892 CNV deletion 23128226
esv2663586 CNV deletion 23128226
esv2657898 CNV deletion 23128226
esv2651616 CNV insertion 19546169
esv2421630 CNV deletion 20811451
esv23428 CNV loss 19812545
esv22330 CNV loss 19812545
esv1457090 CNV insertion 17803354
dgv861n106 CNV deletion 24896259
dgv507e212 CNV loss 25503493
dgv506e212 CNV loss 25503493
dgv505e212 CNV loss 25503493
dgv504e212 CNV loss 25503493
dgv503e212 CNV loss 25503493
dgv502e212 CNV loss 25503493
dgv501e212 CNV loss 25503493
dgv307e199 CNV deletion 23128226
dgv306e199 CNV deletion 23128226
dgv297e214 CNV gain 21293372
dgv2831n54 CNV loss 21841781
dgv1550n100 CNV loss 25217958
dgv1549n100 CNV loss 25217958

Variation tolerance for ANKS1B Gene

Residual Variation Intolerance Score: 3.89% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.95; 59.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKS1B Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKS1B Gene

Disorders for ANKS1B Gene

MalaCards: The human disease database

(3) MalaCards diseases for ANKS1B Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
acute lymphocytic leukemia
  • acute lymphoblastic leukemia
enchondromatosis, multiple, ollier type
  • ollier disease
alzheimer disease
  • ad
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ANKS1B

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ANKS1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANKS1B Gene

Publications for ANKS1B Gene

  1. EB-1, a tyrosine kinase signal transduction gene, is transcriptionally activated in the t(1;19) subset of pre-B ALL, which express oncoprotein E2a-Pbx1. (PMID: 10490826) Fu X … Kamps MP (Oncogene 1999) 2 3 4 22 58
  2. The effects of siRNA-mediated inhibition of E2A-PBX1 on EB-1 and Wnt16b expression in the 697 pre-B leukemia cell line. (PMID: 16769578) Casagrande G … Basso G (Haematologica 2006) 3 4 22 58
  3. Amyloid-beta protein precursor (AbetaPP) intracellular domain-associated protein-1 proteins bind to AbetaPP and modulate its processing in an isoform-specific manner. (PMID: 15347684) Ghersi E … D'Adamio L (The Journal of biological chemistry 2004) 3 4 22 58
  4. The intracellular localization of amyloid beta protein precursor (AbetaPP) intracellular domain associated protein-1 (AIDA-1) is regulated by AbetaPP and alternative splicing. (PMID: 15004329) Ghersi E … D'Adamio L (Journal of Alzheimer's disease : JAD 2004) 3 4 22 58
  5. Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics. (PMID: 19721433) McClay JL … van den Oord EJ (Molecular psychiatry 2011) 3 44 58

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