CIB2 (calcium and integrin binding family member 2) - Rat Genome Database

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Gene: CIB2 (calcium and integrin binding family member 2) Homo sapiens
Analyze
Symbol: CIB2
Name: calcium and integrin binding family member 2
RGD ID: 1318655
HGNC Page HGNC:24579
Description: Enables calcium ion binding activity; magnesium ion binding activity; and protein homodimerization activity. Involved in cellular response to ATP and positive regulation of cytosolic calcium ion concentration. Located in cuticular plate and stereocilium. Implicated in Usher syndrome type 1J and autosomal recessive nonsyndromic deafness 48.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 2810434I23Rik; calcium and integrin-binding family member 2; deafness, autosomal recessive 48; DFNB48; DNA-dependent protein kinase catalytic subunit-interacting protein 2; kinase-interacting protein 2; KIP 2; KIP2; USH1J; Usher syndrome 1J (autosomal recessive)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381578,104,606 - 78,131,535 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1578,104,606 - 78,131,535 (-)EnsemblGRCh38hg38GRCh38
GRCh371578,396,948 - 78,423,877 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361576,184,046 - 76,210,933 (-)NCBINCBI36Build 36hg18NCBI36
Build 341576,184,045 - 76,210,933NCBI
Celera1555,333,003 - 55,359,888 (-)NCBICelera
Cytogenetic Map15q25.1NCBI
HuRef1555,154,506 - 55,181,422 (-)NCBIHuRef
CHM1_11578,514,886 - 78,541,781 (-)NCBICHM1_1
T2T-CHM13v2.01575,967,162 - 75,994,101 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:9630066   PMID:9931475   PMID:15146197   PMID:15489334   PMID:15711797   PMID:17207965   PMID:18976975   PMID:20174665   PMID:20301442   PMID:21873635   PMID:22119785   PMID:22516433  
PMID:22779914   PMID:23023331   PMID:23275889   PMID:23331261   PMID:24022220   PMID:24239741   PMID:24428592   PMID:24616153   PMID:26173970   PMID:26378684   PMID:26426422   PMID:27489023  
PMID:28729416   PMID:29086887   PMID:29112224   PMID:31636333   PMID:32393512   PMID:33961781   PMID:34089643   PMID:35408910  


Genomics

Comparative Map Data
CIB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381578,104,606 - 78,131,535 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1578,104,606 - 78,131,535 (-)EnsemblGRCh38hg38GRCh38
GRCh371578,396,948 - 78,423,877 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361576,184,046 - 76,210,933 (-)NCBINCBI36Build 36hg18NCBI36
Build 341576,184,045 - 76,210,933NCBI
Celera1555,333,003 - 55,359,888 (-)NCBICelera
Cytogenetic Map15q25.1NCBI
HuRef1555,154,506 - 55,181,422 (-)NCBIHuRef
CHM1_11578,514,886 - 78,541,781 (-)NCBICHM1_1
T2T-CHM13v2.01575,967,162 - 75,994,101 (-)NCBIT2T-CHM13v2.0
Cib2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39954,452,074 - 54,467,512 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl954,452,078 - 54,467,502 (-)EnsemblGRCm39 Ensembl
GRCm38954,544,794 - 54,560,190 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl954,544,794 - 54,560,218 (-)EnsemblGRCm38mm10GRCm38
MGSCv37954,393,159 - 54,407,886 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36954,342,933 - 54,358,324 (-)NCBIMGSCv36mm8
Celera951,788,257 - 51,803,325 (-)NCBICelera
Cytogenetic Map9A5.3NCBI
cM Map929.7NCBI
Cib2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8863,826,410 - 63,843,301 (-)NCBIGRCr8
mRatBN7.2854,930,265 - 54,947,157 (-)NCBImRatBN7.2mRatBN7.2
UTH_Rnor_SHR_Utx860,464,045 - 60,480,583 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0858,743,039 - 58,759,577 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0856,607,273 - 56,623,811 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0859,123,078 - 59,139,946 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl859,123,079 - 59,139,946 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0857,703,517 - 57,720,644 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4858,093,941 - 58,110,808 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1858,112,995 - 58,129,862 (-)NCBI
Celera854,418,915 - 54,435,782 (-)NCBICelera
Cytogenetic Map8q24NCBI
Cib2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955450659,383 - 675,634 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955450660,655 - 674,726 (-)NCBIChiLan1.0ChiLan1.0
CIB2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21667,318,400 - 67,345,020 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11571,483,918 - 71,510,707 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01557,033,782 - 57,060,650 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11575,998,797 - 76,025,485 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1575,998,797 - 76,025,485 (-)Ensemblpanpan1.1panPan2
CIB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha360,968,808 - 60,983,455 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0358,745,271 - 58,759,919 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl358,743,365 - 58,760,158 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1358,241,794 - 58,256,438 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0358,449,915 - 58,464,422 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0358,798,942 - 58,813,472 (-)NCBIUU_Cfam_GSD_1.0
Cib2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640119,010,960 - 119,031,107 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647136,859,018 - 36,878,878 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647136,859,018 - 36,879,170 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CIB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl747,788,646 - 47,813,399 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1747,807,806 - 47,813,400 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2753,330,804 - 53,365,124 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CIB2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1265,222,657 - 5,248,133 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl265,222,902 - 5,248,191 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048136,554,738 - 136,580,711 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cib2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248942,688,814 - 2,704,747 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248942,688,784 - 2,704,742 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CIB2
196 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006383.4(CIB2):c.199-92C>T single nucleotide variant not provided [RCV000520952] Chr15:78109474 [GRCh38]
Chr15:78401816 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 48 [RCV000032887]|Autosomal recessive nonsyndromic hearing loss 48 [RCV002496493]|Hearing loss, autosomal recessive [RCV001291223] Chr15:78109309 [GRCh38]
Chr15:78401651 [GRCh37]
Chr15:15q25.1		 pathogenic|likely pathogenic
NM_006383.4(CIB2):c.297C>G (p.Cys99Trp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 48 [RCV000032888]|Hearing loss, autosomal recessive [RCV001291224] Chr15:78109284 [GRCh38]
Chr15:78401626 [GRCh37]
Chr15:15q25.1		 pathogenic|likely pathogenic
NM_006383.4(CIB2):c.368T>C (p.Ile123Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 48 [RCV000032889] Chr15:78105913 [GRCh38]
Chr15:78398255 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_006383.4(CIB2):c.192G>C (p.Glu64Asp) single nucleotide variant Usher syndrome type 1 [RCV000223233]|Usher syndrome type 1J [RCV000032890] Chr15:78111171 [GRCh38]
Chr15:78403513 [GRCh37]
Chr15:15q25.1		 pathogenic|not provided
GRCh38/hg38 15q24.3-25.1(chr15:77640317-78459174)x3 copy number gain See cases [RCV000050915] Chr15:77640317..78459174 [GRCh38]
Chr15:77932659..78751516 [GRCh37]
Chr15:75719714..76538571 [NCBI36]
Chr15:15q24.3-25.1		 uncertain significance
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3		 pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3		 pathogenic
GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1 copy number loss See cases [RCV000137079] Chr15:76006154..79982417 [GRCh38]
Chr15:76298495..80274759 [GRCh37]
Chr15:74085550..78061814 [NCBI36]
Chr15:15q24.2-25.1		 pathogenic|uncertain significance
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 copy number loss See cases [RCV000141666] Chr15:70025300..78705993 [GRCh38]
Chr15:70317639..78998335 [GRCh37]
Chr15:68104693..76785390 [NCBI36]
Chr15:15q23-25.1		 pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3		 pathogenic
NM_006383.4(CIB2):c.462G>A (p.Glu154=) single nucleotide variant not provided [RCV000957942]|not specified [RCV000178917] Chr15:78105819 [GRCh38]
Chr15:78398161 [GRCh37]
Chr15:15q25.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006383.4(CIB2):c.448G>A (p.Asp150Asn) single nucleotide variant CIB2-related condition [RCV003891743]|not provided [RCV000888182]|not specified [RCV000178918] Chr15:78105833 [GRCh38]
Chr15:78398175 [GRCh37]
Chr15:15q25.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006383.4(CIB2):c.523A>C (p.Lys175Gln) single nucleotide variant not provided [RCV001042280]|not specified [RCV000219556] Chr15:78105758 [GRCh38]
Chr15:78398100 [GRCh37]
Chr15:15q25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006383.4(CIB2):c.303G>A (p.Ser101=) single nucleotide variant not provided [RCV000991808]|not specified [RCV000214477] Chr15:78109278 [GRCh38]
Chr15:78401620 [GRCh37]
Chr15:15q25.1		 benign
NM_006383.4(CIB2):c.477C>T (p.Asp159=) single nucleotide variant not provided [RCV001521864]|not specified [RCV000218695] Chr15:78105804 [GRCh38]
Chr15:78398146 [GRCh37]
Chr15:15q25.1		 benign
NM_006383.4(CIB2):c.141G>A (p.Arg47=) single nucleotide variant not provided [RCV002054942]|not specified [RCV000215247] Chr15:78111222 [GRCh38]
Chr15:78403564 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.393G>A (p.Thr131=) single nucleotide variant not provided [RCV001522411]|not specified [RCV000219430] Chr15:78105888 [GRCh38]
Chr15:78398230 [GRCh37]
Chr15:15q25.1		 benign
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3		 pathogenic
NM_006383.4(CIB2):c.-22G>A single nucleotide variant not specified [RCV000600443] Chr15:78131237 [GRCh38]
Chr15:78423579 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.192G>A (p.Glu64=) single nucleotide variant not provided [RCV000727100]|not specified [RCV000243546] Chr15:78111171 [GRCh38]
Chr15:78403513 [GRCh37]
Chr15:15q25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3		 pathogenic
NM_006383.4(CIB2):c.231G>A (p.Ala77=) single nucleotide variant CIB2-related condition [RCV003957504]|not provided [RCV000351148] Chr15:78109350 [GRCh38]
Chr15:78401692 [GRCh37]
Chr15:15q25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006383.4(CIB2):c.473T>G (p.Leu158Trp) single nucleotide variant not provided [RCV000328049] Chr15:78105808 [GRCh38]
Chr15:78398150 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.78C>T (p.Asp26=) single nucleotide variant not provided [RCV000408341] Chr15:78123713 [GRCh38]
Chr15:78416055 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.542+1G>A single nucleotide variant not provided [RCV001367733] Chr15:78105738 [GRCh38]
Chr15:78398080 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.87-239G>T single nucleotide variant not provided [RCV001547019] Chr15:78111515 [GRCh38]
Chr15:78403857 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.-39T>G single nucleotide variant not specified [RCV000606349] Chr15:78131254 [GRCh38]
Chr15:78423596 [GRCh37]
Chr15:15q25.1		 benign
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3		 likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
NM_006383.4(CIB2):c.266A>G (p.Asn89Ser) single nucleotide variant not provided [RCV003328021] Chr15:78109315 [GRCh38]
Chr15:78401657 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.23T>G (p.Phe8Cys) single nucleotide variant Inborn genetic diseases [RCV003292061] Chr15:78131193 [GRCh38]
Chr15:78423535 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.557G>A (p.Arg186Gln) single nucleotide variant not provided [RCV001043447]|not specified [RCV000608870] Chr15:78105318 [GRCh38]
Chr15:78397660 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.300_309del (p.Glu100fs) deletion Autosomal recessive nonsyndromic hearing loss 48 [RCV002483678]|Rare genetic deafness [RCV000607732]|not provided [RCV001225372] Chr15:78109272..78109281 [GRCh38]
Chr15:78401614..78401623 [GRCh37]
Chr15:15q25.1		 pathogenic|likely pathogenic
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 48 [RCV001290343]|Childhood onset hearing loss [RCV001328027]|Usher syndrome [RCV002307557]|not provided [RCV000596997]|not specified [RCV001195601] Chr15:78105319 [GRCh38]
Chr15:78397661 [GRCh37]
Chr15:15q25.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
GRCh37/hg19 15q24.3-25.1(chr15:78193071-78767884)x3 copy number gain not provided [RCV000683711] Chr15:78193071..78767884 [GRCh37]
Chr15:15q24.3-25.1		 uncertain significance
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3		 pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain not provided [RCV000683710] Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_006383.4(CIB2):c.346+161C>T single nucleotide variant not provided [RCV001539630] Chr15:78109074 [GRCh38]
Chr15:78401416 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.223G>A (p.Val75Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 48 [RCV000755752]|not provided [RCV001855863] Chr15:78109358 [GRCh38]
Chr15:78401700 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.249G>A (p.Glu83=) single nucleotide variant not provided [RCV000917094] Chr15:78109332 [GRCh38]
Chr15:78401674 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.86+251C>T single nucleotide variant not provided [RCV001583772] Chr15:78123454 [GRCh38]
Chr15:78415796 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.51+28A>G single nucleotide variant not provided [RCV001709445] Chr15:78131137 [GRCh38]
Chr15:78423479 [GRCh37]
Chr15:15q25.1		 benign
NM_006383.4(CIB2):c.51+278G>A single nucleotide variant not provided [RCV001586541] Chr15:78130887 [GRCh38]
Chr15:78423229 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.374A>G (p.Lys125Arg) single nucleotide variant not provided [RCV001052940] Chr15:78105907 [GRCh38]
Chr15:78398249 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.198+3A>G single nucleotide variant not provided [RCV001060167] Chr15:78111162 [GRCh38]
Chr15:78403504 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.*41C>T single nucleotide variant not provided [RCV001680368] Chr15:78105270 [GRCh38]
Chr15:78397612 [GRCh37]
Chr15:15q25.1		 benign
NM_006383.4(CIB2):c.347-210T>G single nucleotide variant not provided [RCV001570509] Chr15:78106144 [GRCh38]
Chr15:78398486 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.*298C>A single nucleotide variant not provided [RCV001708789] Chr15:78105013 [GRCh38]
Chr15:78397355 [GRCh37]
Chr15:15q25.1		 benign
NM_006383.4(CIB2):c.198+146T>G single nucleotide variant not provided [RCV001576503] Chr15:78111019 [GRCh38]
Chr15:78403361 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.97C>T (p.Arg33Ter) single nucleotide variant Usher syndrome [RCV003155335]|not provided [RCV001007984] Chr15:78111266 [GRCh38]
Chr15:78403608 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_006383.4(CIB2):c.87-3A>G single nucleotide variant not provided [RCV000898918] Chr15:78111279 [GRCh38]
Chr15:78403621 [GRCh37]
Chr15:15q25.1		 benign|likely benign
NM_006383.4(CIB2):c.507C>T (p.Phe169=) single nucleotide variant not provided [RCV000895476] Chr15:78105774 [GRCh38]
Chr15:78398116 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.27C>G (p.Thr9=) single nucleotide variant not provided [RCV000881849] Chr15:78131189 [GRCh38]
Chr15:78423531 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.311G>A (p.Arg104Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 48 [RCV002495186]|not provided [RCV001411435]|not specified [RCV000825139] Chr15:78109270 [GRCh38]
Chr15:78401612 [GRCh37]
Chr15:15q25.1		 likely benign|conflicting interpretations of pathogenicity
NM_006383.4(CIB2):c.-39T>A single nucleotide variant not provided [RCV000838288] Chr15:78131254 [GRCh38]
Chr15:78423596 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.51+74C>T single nucleotide variant not provided [RCV000842906] Chr15:78131091 [GRCh38]
Chr15:78423433 [GRCh37]
Chr15:15q25.1		 benign
NM_006383.4(CIB2):c.98G>A (p.Arg33Gln) single nucleotide variant not provided [RCV000995404] Chr15:78111265 [GRCh38]
Chr15:78403607 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.401G>A (p.Arg134Gln) single nucleotide variant not provided [RCV001234843] Chr15:78105880 [GRCh38]
Chr15:78398222 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.198+180G>A single nucleotide variant not provided [RCV001549695] Chr15:78110985 [GRCh38]
Chr15:78403327 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.346+242T>G single nucleotide variant not provided [RCV001619261] Chr15:78108993 [GRCh38]
Chr15:78401335 [GRCh37]
Chr15:15q25.1		 benign
NM_006383.4(CIB2):c.542+51G>A single nucleotide variant not provided [RCV001561571] Chr15:78105688 [GRCh38]
Chr15:78398030 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.51+273del deletion not provided [RCV001651579] Chr15:78130892 [GRCh38]
Chr15:78423234 [GRCh37]
Chr15:15q25.1		 benign
NM_006383.4(CIB2):c.346+232G>A single nucleotide variant not provided [RCV001561882] Chr15:78109003 [GRCh38]
Chr15:78401345 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.543-45C>T single nucleotide variant not provided [RCV001586921] Chr15:78105377 [GRCh38]
Chr15:78397719 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.*149dup duplication not provided [RCV001562620] Chr15:78105161..78105162 [GRCh38]
Chr15:78397503..78397504 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.-109C>T single nucleotide variant not provided [RCV001639971] Chr15:78131324 [GRCh38]
Chr15:78423666 [GRCh37]
Chr15:15q25.1		 benign
NM_006383.4(CIB2):c.346+135C>G single nucleotide variant not provided [RCV001620951] Chr15:78109100 [GRCh38]
Chr15:78401442 [GRCh37]
Chr15:15q25.1		 benign
NM_006383.4(CIB2):c.198+328G>C single nucleotide variant not provided [RCV001620976] Chr15:78110837 [GRCh38]
Chr15:78403179 [GRCh37]
Chr15:15q25.1		 benign
NM_006383.4(CIB2):c.543-30C>T single nucleotide variant not provided [RCV001587751] Chr15:78105362 [GRCh38]
Chr15:78397704 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.86+225C>T single nucleotide variant not provided [RCV001547501] Chr15:78123480 [GRCh38]
Chr15:78415822 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.199-298G>A single nucleotide variant not provided [RCV001656974] Chr15:78109680 [GRCh38]
Chr15:78402022 [GRCh37]
Chr15:15q25.1		 benign
NM_006383.4(CIB2):c.401G>T (p.Arg134Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 48 [RCV002491629]|not provided [RCV001207745] Chr15:78105880 [GRCh38]
Chr15:78398222 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.48C>G (p.Tyr16Ter) single nucleotide variant not provided [RCV001222810] Chr15:78131168 [GRCh38]
Chr15:78423510 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_006383.4(CIB2):c.310C>G (p.Arg104Gly) single nucleotide variant not provided [RCV001227751] Chr15:78109271 [GRCh38]
Chr15:78401613 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.543-136C>T single nucleotide variant not provided [RCV001553031] Chr15:78105468 [GRCh38]
Chr15:78397810 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.*298C>G single nucleotide variant not provided [RCV001550444] Chr15:78105013 [GRCh38]
Chr15:78397355 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.199-170A>C single nucleotide variant not provided [RCV001576661] Chr15:78109552 [GRCh38]
Chr15:78401894 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.87-50G>A single nucleotide variant not provided [RCV001593359] Chr15:78111326 [GRCh38]
Chr15:78403668 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.*185C>G single nucleotide variant not provided [RCV001536144] Chr15:78105126 [GRCh38]
Chr15:78397468 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.198+276_198+293del deletion not provided [RCV001617173] Chr15:78110872..78110889 [GRCh38]
Chr15:78403214..78403231 [GRCh37]
Chr15:15q25.1		 benign
NM_006383.4(CIB2):c.199-283T>C single nucleotide variant not provided [RCV001581626] Chr15:78109665 [GRCh38]
Chr15:78402007 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.346+37T>G single nucleotide variant not provided [RCV001649577] Chr15:78109198 [GRCh38]
Chr15:78401540 [GRCh37]
Chr15:15q25.1		 benign
NM_006383.4(CIB2):c.289G>A (p.Val97Met) single nucleotide variant not provided [RCV001054504] Chr15:78109292 [GRCh38]
Chr15:78401634 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.543-50C>T single nucleotide variant not provided [RCV001575202] Chr15:78105382 [GRCh38]
Chr15:78397724 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.543-172A>G single nucleotide variant not provided [RCV001651872] Chr15:78105504 [GRCh38]
Chr15:78397846 [GRCh37]
Chr15:15q25.1		 benign
NM_006383.4(CIB2):c.346+38dup duplication not provided [RCV001671944] Chr15:78109192..78109193 [GRCh38]
Chr15:78401534..78401535 [GRCh37]
Chr15:15q25.1		 benign
NM_006383.4(CIB2):c.227C>T (p.Ala76Val) single nucleotide variant Inborn genetic diseases [RCV002553382]|not provided [RCV001059683] Chr15:78109354 [GRCh38]
Chr15:78401696 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.346+35G>C single nucleotide variant not provided [RCV001650782] Chr15:78109200 [GRCh38]
Chr15:78401542 [GRCh37]
Chr15:15q25.1		 benign
NM_006383.4(CIB2):c.307C>T (p.Pro103Ser) single nucleotide variant not provided [RCV001207669] Chr15:78109274 [GRCh38]
Chr15:78401616 [GRCh37]
Chr15:15q25.1		 uncertain significance
GRCh37/hg19 15q24.3-25.1(chr15:78024643-78426363)x3 copy number gain not provided [RCV001006713] Chr15:78024643..78426363 [GRCh37]
Chr15:15q24.3-25.1		 uncertain significance
NM_006383.4(CIB2):c.124G>A (p.Val42Ile) single nucleotide variant not provided [RCV001237272] Chr15:78111239 [GRCh38]
Chr15:78403581 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.104A>G (p.Tyr35Cys) single nucleotide variant not provided [RCV001234143] Chr15:78111259 [GRCh38]
Chr15:78403601 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.254A>C (p.Asn85Thr) single nucleotide variant not provided [RCV001232519] Chr15:78109327 [GRCh38]
Chr15:78401669 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.238G>A (p.Glu80Lys) single nucleotide variant not provided [RCV001047242] Chr15:78109343 [GRCh38]
Chr15:78401685 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.297C>T (p.Cys99=) single nucleotide variant CIB2-related condition [RCV003938569]|not provided [RCV001230314] Chr15:78109284 [GRCh38]
Chr15:78401626 [GRCh37]
Chr15:15q25.1		 likely benign|uncertain significance
NM_006383.4(CIB2):c.198+24C>T single nucleotide variant not provided [RCV001545720] Chr15:78111141 [GRCh38]
Chr15:78403483 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.508G>A (p.Glu170Lys) single nucleotide variant not provided [RCV001327515] Chr15:78105773 [GRCh38]
Chr15:78398115 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.532G>C (p.Asp178His) single nucleotide variant not provided [RCV001309269] Chr15:78105749 [GRCh38]
Chr15:78398091 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.503A>T (p.Asp168Val) single nucleotide variant not provided [RCV001319302] Chr15:78105778 [GRCh38]
Chr15:78398120 [GRCh37]
Chr15:15q25.1		 uncertain significance
NC_000015.9:g.(?_78416047)_(78423557_?)dup duplication not provided [RCV001374169] Chr15:78416047..78423557 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.196C>T (p.Arg66Trp) single nucleotide variant Hearing impairment [RCV001375146]|not provided [RCV001871966] Chr15:78111167 [GRCh38]
Chr15:78403509 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_006383.4(CIB2):c.166A>G (p.Met56Val) single nucleotide variant Inborn genetic diseases [RCV002547545]|not provided [RCV001351943] Chr15:78111197 [GRCh38]
Chr15:78403539 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.302C>T (p.Ser101Leu) single nucleotide variant not provided [RCV001314480] Chr15:78109279 [GRCh38]
Chr15:78401621 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.197G>A (p.Arg66Gln) single nucleotide variant not provided [RCV001346583] Chr15:78111166 [GRCh38]
Chr15:78403508 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.160G>A (p.Val54Met) single nucleotide variant not provided [RCV001345887] Chr15:78111203 [GRCh38]
Chr15:78403545 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.199-117C>T single nucleotide variant Deafness, autosomal recessive 48 [RCV001335414] Chr15:78109499 [GRCh38]
Chr15:78401841 [GRCh37]
Chr15:15q25.1		 pathogenic
NC_000015.9:g.(?_78397653)_(78423557_?)dup duplication not provided [RCV001323427] Chr15:78397653..78423557 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.352A>G (p.Asn118Asp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 48 [RCV002476538]|not provided [RCV001326963] Chr15:78105929 [GRCh38]
Chr15:78398271 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.130A>G (p.Met44Val) single nucleotide variant not provided [RCV001362026]|not specified [RCV003479317] Chr15:78111233 [GRCh38]
Chr15:78403575 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.108G>C (p.Glu36Asp) single nucleotide variant not provided [RCV001363776] Chr15:78111255 [GRCh38]
Chr15:78403597 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.392C>T (p.Thr131Met) single nucleotide variant not provided [RCV001315487] Chr15:78105889 [GRCh38]
Chr15:78398231 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.154G>A (p.Val52Ile) single nucleotide variant not provided [RCV001314597] Chr15:78111209 [GRCh38]
Chr15:78403551 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.454G>T (p.Val152Phe) single nucleotide variant not provided [RCV001372005] Chr15:78105827 [GRCh38]
Chr15:78398169 [GRCh37]
Chr15:15q25.1		 uncertain significance
NC_000015.9:g.(?_78423487)_(78423557_?)dup duplication not provided [RCV001339209] Chr15:78423487..78423557 [GRCh37]
Chr15:15q25.1		 uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
NM_006383.4(CIB2):c.228G>A (p.Ala76=) single nucleotide variant not provided [RCV001487571] Chr15:78109353 [GRCh38]
Chr15:78401695 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.483C>T (p.Asp161=) single nucleotide variant not provided [RCV001464216] Chr15:78105798 [GRCh38]
Chr15:78398140 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.542+20C>T single nucleotide variant not provided [RCV001446043] Chr15:78105719 [GRCh38]
Chr15:78398061 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.480T>A (p.Gly160=) single nucleotide variant not provided [RCV001407086] Chr15:78105801 [GRCh38]
Chr15:78398143 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.366C>T (p.Phe122=) single nucleotide variant not provided [RCV001448833] Chr15:78105915 [GRCh38]
Chr15:78398257 [GRCh37]
Chr15:15q25.1		 likely benign|conflicting interpretations of pathogenicity
NM_006383.4(CIB2):c.333C>T (p.Ala111=) single nucleotide variant not provided [RCV001407479] Chr15:78109248 [GRCh38]
Chr15:78401590 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.346+37T>A single nucleotide variant not provided [RCV001541614] Chr15:78109198 [GRCh38]
Chr15:78401540 [GRCh37]
Chr15:15q25.1		 benign
NM_006383.4(CIB2):c.123C>T (p.Leu41=) single nucleotide variant not provided [RCV001434807] Chr15:78111240 [GRCh38]
Chr15:78403582 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.354C>T (p.Asn118=) single nucleotide variant not provided [RCV001404031] Chr15:78105927 [GRCh38]
Chr15:78398269 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.24C>T (p.Phe8=) single nucleotide variant not provided [RCV001454923] Chr15:78131192 [GRCh38]
Chr15:78423534 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.199-251C>T single nucleotide variant not provided [RCV001581844] Chr15:78109633 [GRCh38]
Chr15:78401975 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.199-277T>G single nucleotide variant not provided [RCV001643997] Chr15:78109659 [GRCh38]
Chr15:78402001 [GRCh37]
Chr15:15q25.1		 benign
NM_006383.4(CIB2):c.198+215A>G single nucleotide variant not provided [RCV001715271] Chr15:78110950 [GRCh38]
Chr15:78403292 [GRCh37]
Chr15:15q25.1		 benign
NM_006383.4(CIB2):c.346+11C>T single nucleotide variant not provided [RCV001466579] Chr15:78109224 [GRCh38]
Chr15:78401566 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.261T>C (p.Thr87=) single nucleotide variant not provided [RCV001471312] Chr15:78109320 [GRCh38]
Chr15:78401662 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.86+16C>T single nucleotide variant not provided [RCV001488771] Chr15:78123689 [GRCh38]
Chr15:78416031 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.346+35_346+36dup duplication not provided [RCV001708701] Chr15:78109198..78109199 [GRCh38]
Chr15:78401540..78401541 [GRCh37]
Chr15:15q25.1		 benign
NM_006383.4(CIB2):c.484G>A (p.Gly162Ser) single nucleotide variant not provided [RCV001732897] Chr15:78105797 [GRCh38]
Chr15:78398139 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.4G>A (p.Gly2Arg) single nucleotide variant not provided [RCV001912102] Chr15:78131212 [GRCh38]
Chr15:78423554 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.301_311del (p.Ser101fs) deletion not provided [RCV001987679] Chr15:78109270..78109280 [GRCh38]
Chr15:78401612..78401622 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_006383.4(CIB2):c.248A>G (p.Glu83Gly) single nucleotide variant not provided [RCV002022933] Chr15:78109333 [GRCh38]
Chr15:78401675 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.40_47del (p.Asp14fs) deletion not provided [RCV001914013] Chr15:78131169..78131176 [GRCh38]
Chr15:78423511..78423518 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_006383.4(CIB2):c.323C>A (p.Ala108Glu) single nucleotide variant not provided [RCV002025658] Chr15:78109258 [GRCh38]
Chr15:78401600 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.453G>C (p.Lys151Asn) single nucleotide variant not provided [RCV002006424] Chr15:78105828 [GRCh38]
Chr15:78398170 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.71A>C (p.Lys24Thr) single nucleotide variant not provided [RCV001909815] Chr15:78123720 [GRCh38]
Chr15:78416062 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.198G>A (p.Arg66=) single nucleotide variant not provided [RCV001968283] Chr15:78111165 [GRCh38]
Chr15:78403507 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.327C>G (p.Asn109Lys) single nucleotide variant not provided [RCV002007978] Chr15:78109254 [GRCh38]
Chr15:78401596 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.201G>C (p.Glu67Asp) single nucleotide variant not provided [RCV002003499] Chr15:78109380 [GRCh38]
Chr15:78401722 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.61T>C (p.Phe21Leu) single nucleotide variant not provided [RCV001980417] Chr15:78123730 [GRCh38]
Chr15:78416072 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.385G>T (p.Glu129Ter) single nucleotide variant not provided [RCV001942283] Chr15:78105896 [GRCh38]
Chr15:78398238 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_006383.4(CIB2):c.309_310del (p.Glu105fs) deletion not provided [RCV001962881] Chr15:78109271..78109272 [GRCh38]
Chr15:78401613..78401614 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_006383.4(CIB2):c.164C>T (p.Pro55Leu) single nucleotide variant not provided [RCV001932985] Chr15:78111199 [GRCh38]
Chr15:78403541 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.530C>T (p.Pro177Leu) single nucleotide variant not provided [RCV002001362] Chr15:78105751 [GRCh38]
Chr15:78398093 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.164C>A (p.Pro55His) single nucleotide variant not provided [RCV002037258] Chr15:78111199 [GRCh38]
Chr15:78403541 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.347-7C>A single nucleotide variant not provided [RCV002033539] Chr15:78105941 [GRCh38]
Chr15:78398283 [GRCh37]
Chr15:15q25.1		 likely benign|uncertain significance
NM_006383.4(CIB2):c.310C>T (p.Arg104Ter) single nucleotide variant not provided [RCV001962342] Chr15:78109271 [GRCh38]
Chr15:78401613 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_006383.4(CIB2):c.322G>A (p.Ala108Thr) single nucleotide variant not provided [RCV001992137] Chr15:78109259 [GRCh38]
Chr15:78401601 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.167T>C (p.Met56Thr) single nucleotide variant not provided [RCV001979294] Chr15:78111196 [GRCh38]
Chr15:78403538 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.193C>G (p.Leu65Val) single nucleotide variant not provided [RCV002013327] Chr15:78111170 [GRCh38]
Chr15:78403512 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.553A>C (p.Ile185Leu) single nucleotide variant not provided [RCV001934494] Chr15:78105322 [GRCh38]
Chr15:78397664 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.277G>A (p.Asp93Asn) single nucleotide variant not provided [RCV001883148] Chr15:78109304 [GRCh38]
Chr15:78401646 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.400C>T (p.Arg134Trp) single nucleotide variant not provided [RCV001951913] Chr15:78105881 [GRCh38]
Chr15:78398223 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.280A>G (p.Met94Val) single nucleotide variant not provided [RCV001959618] Chr15:78109301 [GRCh38]
Chr15:78401643 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.409A>G (p.Lys137Glu) single nucleotide variant not provided [RCV001958526] Chr15:78105872 [GRCh38]
Chr15:78398214 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.51+17C>T single nucleotide variant not provided [RCV002108336] Chr15:78131148 [GRCh38]
Chr15:78423490 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.153C>T (p.Ile51=) single nucleotide variant not provided [RCV002087644] Chr15:78111210 [GRCh38]
Chr15:78403552 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.346+20G>A single nucleotide variant not provided [RCV002209069] Chr15:78109215 [GRCh38]
Chr15:78401557 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.96G>A (p.Ser32=) single nucleotide variant not provided [RCV002189857] Chr15:78111267 [GRCh38]
Chr15:78403609 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.543-17C>G single nucleotide variant not provided [RCV002174157] Chr15:78105349 [GRCh38]
Chr15:78397691 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.54C>T (p.Asp18=) single nucleotide variant not provided [RCV002194081] Chr15:78123737 [GRCh38]
Chr15:78416079 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.447C>T (p.Cys149=) single nucleotide variant not provided [RCV002195955] Chr15:78105834 [GRCh38]
Chr15:78398176 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.542+13C>T single nucleotide variant not provided [RCV002152770] Chr15:78105726 [GRCh38]
Chr15:78398068 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.465G>A (p.Glu155=) single nucleotide variant not provided [RCV002172886] Chr15:78105816 [GRCh38]
Chr15:78398158 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.346+16G>C single nucleotide variant not provided [RCV002130939] Chr15:78109219 [GRCh38]
Chr15:78401561 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.84C>G (p.Leu28=) single nucleotide variant not provided [RCV002194533] Chr15:78123707 [GRCh38]
Chr15:78416049 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.279C>T (p.Asp93=) single nucleotide variant not provided [RCV002159956] Chr15:78109302 [GRCh38]
Chr15:78401644 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.267C>T (p.Asn89=) single nucleotide variant not provided [RCV002155341] Chr15:78109314 [GRCh38]
Chr15:78401656 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.543-5T>C single nucleotide variant not provided [RCV002184472] Chr15:78105337 [GRCh38]
Chr15:78397679 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.81C>T (p.Ile27=) single nucleotide variant not provided [RCV002123428] Chr15:78123710 [GRCh38]
Chr15:78416052 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.87-4C>G single nucleotide variant not provided [RCV002135688] Chr15:78111280 [GRCh38]
Chr15:78403622 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.433G>A (p.Val145Met) single nucleotide variant not provided [RCV003118784] Chr15:78105848 [GRCh38]
Chr15:78398190 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.47A>G (p.Tyr16Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 48 [RCV002289439] Chr15:78131169 [GRCh38]
Chr15:78423511 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.9C>G (p.Asn3Lys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 48 [RCV002463827] Chr15:78131207 [GRCh38]
Chr15:78423549 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.121C>T (p.Leu41Phe) single nucleotide variant not provided [RCV002306311] Chr15:78111242 [GRCh38]
Chr15:78403584 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.543-12C>T single nucleotide variant not provided [RCV003032436] Chr15:78105344 [GRCh38]
Chr15:78397686 [GRCh37]
Chr15:15q25.1		 likely benign
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3 copy number gain not provided [RCV002475797] Chr15:77512817..102035027 [GRCh37]
Chr15:15q24.3-26.3		 pathogenic
NM_006383.4(CIB2):c.133G>A (p.Asp45Asn) single nucleotide variant not provided [RCV002636164] Chr15:78111230 [GRCh38]
Chr15:78403572 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.482A>C (p.Asp161Ala) single nucleotide variant not provided [RCV002843717] Chr15:78105799 [GRCh38]
Chr15:78398141 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.543-8C>T single nucleotide variant not provided [RCV002820080] Chr15:78105340 [GRCh38]
Chr15:78397682 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.44A>G (p.Asn15Ser) single nucleotide variant Inborn genetic diseases [RCV002836655] Chr15:78131172 [GRCh38]
Chr15:78423514 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.177C>T (p.Ile59=) single nucleotide variant not provided [RCV002971661] Chr15:78111186 [GRCh38]
Chr15:78403528 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.51+18G>C single nucleotide variant not provided [RCV002975402] Chr15:78131147 [GRCh38]
Chr15:78423489 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.72G>C (p.Lys24Asn) single nucleotide variant Inborn genetic diseases [RCV002818310] Chr15:78123719 [GRCh38]
Chr15:78416061 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.369C>T (p.Ile123=) single nucleotide variant not provided [RCV002617534] Chr15:78105912 [GRCh38]
Chr15:78398254 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.39A>G (p.Leu13=) single nucleotide variant not provided [RCV002640233] Chr15:78131177 [GRCh38]
Chr15:78423519 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.288C>T (p.Ser96=) single nucleotide variant not provided [RCV002639495] Chr15:78109293 [GRCh38]
Chr15:78401635 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.87-13G>A single nucleotide variant not provided [RCV003053623] Chr15:78111289 [GRCh38]
Chr15:78403631 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.51+19G>T single nucleotide variant not provided [RCV002823896] Chr15:78131146 [GRCh38]
Chr15:78423488 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.407C>T (p.Thr136Ile) single nucleotide variant not provided [RCV002975991] Chr15:78105874 [GRCh38]
Chr15:78398216 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.478G>A (p.Gly160Ser) single nucleotide variant not provided [RCV002639813] Chr15:78105803 [GRCh38]
Chr15:78398145 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.52-6C>G single nucleotide variant not provided [RCV002828140] Chr15:78123745 [GRCh38]
Chr15:78416087 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.451A>G (p.Lys151Glu) single nucleotide variant not provided [RCV003041846] Chr15:78105830 [GRCh38]
Chr15:78398172 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.266A>C (p.Asn89Thr) single nucleotide variant not provided [RCV002851608] Chr15:78109315 [GRCh38]
Chr15:78401657 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.51+6C>G single nucleotide variant not provided [RCV003024368] Chr15:78131159 [GRCh38]
Chr15:78423501 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.542+11T>C single nucleotide variant not provided [RCV002890188] Chr15:78105728 [GRCh38]
Chr15:78398070 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.86+17G>A single nucleotide variant not provided [RCV002578573] Chr15:78123688 [GRCh38]
Chr15:78416030 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.52G>C (p.Asp18His) single nucleotide variant not provided [RCV002966762] Chr15:78123739 [GRCh38]
Chr15:78416081 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.490C>T (p.Leu164=) single nucleotide variant not provided [RCV002810385] Chr15:78105791 [GRCh38]
Chr15:78398133 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.542+10C>T single nucleotide variant not provided [RCV003009998] Chr15:78105729 [GRCh38]
Chr15:78398071 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.237C>T (p.Ser79=) single nucleotide variant not provided [RCV003091831] Chr15:78109344 [GRCh38]
Chr15:78401686 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.346+11del deletion not provided [RCV002680851] Chr15:78109224 [GRCh38]
Chr15:78401566 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.51+13C>T single nucleotide variant not provided [RCV002653529] Chr15:78131152 [GRCh38]
Chr15:78423494 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.347-2A>C single nucleotide variant not provided [RCV003129387] Chr15:78105936 [GRCh38]
Chr15:78398278 [GRCh37]
Chr15:15q25.1		 likely pathogenic
NM_006383.4(CIB2):c.552C>T (p.His184=) single nucleotide variant not provided [RCV002605203] Chr15:78105323 [GRCh38]
Chr15:78397665 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.246T>C (p.Gly82=) single nucleotide variant not provided [RCV002588822] Chr15:78109335 [GRCh38]
Chr15:78401677 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.28G>A (p.Glu10Lys) single nucleotide variant not provided [RCV002635968] Chr15:78131188 [GRCh38]
Chr15:78423530 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.119A>G (p.Asn40Ser) single nucleotide variant not provided [RCV002634126] Chr15:78111244 [GRCh38]
Chr15:78403586 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.95C>T (p.Ser32Leu) single nucleotide variant not provided [RCV002635370] Chr15:78111268 [GRCh38]
Chr15:78403610 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006383.4(CIB2):c.276G>A (p.Val92=) single nucleotide variant not specified [RCV003155721] Chr15:78109305 [GRCh38]
Chr15:78401647 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.295T>C (p.Cys99Arg) single nucleotide variant Inborn genetic diseases [RCV003295796] Chr15:78109286 [GRCh38]
Chr15:78401628 [GRCh37]
Chr15:15q25.1		 uncertain significance
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 copy number gain not provided [RCV003222839] Chr15:67358491..91644328 [GRCh37]
Chr15:15q22.33-26.1		 pathogenic
NM_006383.4(CIB2):c.199-1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 48 [RCV003227457] Chr15:78109383 [GRCh38]
Chr15:78401725 [GRCh37]
Chr15:15q25.1		 likely pathogenic
NM_006383.4(CIB2):c.476_479del (p.Asp159fs) deletion Usher syndrome type 1J [RCV003153285] Chr15:78105802..78105805 [GRCh38]
Chr15:78398144..78398147 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_006383.4(CIB2):c.347-12C>T single nucleotide variant not provided [RCV003319706] Chr15:78105946 [GRCh38]
Chr15:78398288 [GRCh37]
Chr15:15q25.1		 uncertain significance
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 copy number gain See cases [RCV003329502] Chr15:75165490..102520892 [GRCh37]
Chr15:15q24.1-26.3		 pathogenic
NM_006383.4(CIB2):c.558G>T (p.Arg186=) single nucleotide variant not provided [RCV003400967] Chr15:78105317 [GRCh38]
Chr15:78397659 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.199-125G>A single nucleotide variant CIB2-related condition [RCV003418898] Chr15:78109507 [GRCh38]
Chr15:78401849 [GRCh37]
Chr15:15q25.1		 likely pathogenic
NM_006383.4(CIB2):c.199-15G>T single nucleotide variant not provided [RCV003830607] Chr15:78109397 [GRCh38]
Chr15:78401739 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.51+18G>A single nucleotide variant not provided [RCV003828287] Chr15:78131147 [GRCh38]
Chr15:78423489 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.347-6C>T single nucleotide variant not provided [RCV003580401] Chr15:78105940 [GRCh38]
Chr15:78398282 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.199-7T>C single nucleotide variant not provided [RCV003697337] Chr15:78109389 [GRCh38]
Chr15:78401731 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.199-15G>A single nucleotide variant not provided [RCV003861935] Chr15:78109397 [GRCh38]
Chr15:78401739 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006383.4(CIB2):c.199-34C>T single nucleotide variant CIB2-related condition [RCV003921488] Chr15:78109416 [GRCh38]
Chr15:78401758 [GRCh37]
Chr15:15q25.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3131
Count of miRNA genes:875
Interacting mature miRNAs:1052
Transcripts:ENST00000258930, ENST00000539011, ENST00000557818, ENST00000557846, ENST00000557917, ENST00000559054, ENST00000559645, ENST00000560618, ENST00000561190
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
STS-D60668  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371578,396,998 - 78,397,205UniSTSGRCh37
Build 361576,184,053 - 76,184,260RGDNCBI36
Celera1555,333,010 - 55,333,217RGD
Cytogenetic Map15q24UniSTS
HuRef1555,154,556 - 55,154,763UniSTS
GeneMap99-GB4 RH Map15272.56UniSTS
G62031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371578,398,107 - 78,398,225UniSTSGRCh37
Build 361576,185,162 - 76,185,280RGDNCBI36
Celera1555,334,118 - 55,334,236RGD
Cytogenetic Map15q24UniSTS
HuRef1555,155,664 - 55,155,782UniSTS
WI-17359  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371578,397,267 - 78,397,393UniSTSGRCh37
Build 361576,184,322 - 76,184,448RGDNCBI36
Celera1555,333,279 - 55,333,404RGD
Cytogenetic Map15q24UniSTS
HuRef1555,154,825 - 55,154,950UniSTS
GeneMap99-GB4 RH Map15272.77UniSTS
Whitehead-RH Map15284.7UniSTS
NCBI RH Map15513.2UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 904 542 395 24 130 20 541 550 813 163 954 231 9 64 157 2
Low 1502 2063 1122 391 1398 238 3812 1623 2904 248 495 1362 163 1 1140 2631 4
Below cutoff 29 380 204 204 407 204 2 23 16 8 10 15 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_125435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005254126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA731290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB012955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI817087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI857912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC057292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE042882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE907622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI523557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM908035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ681471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU556614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN371149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN371150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000258930   ⟹   ENSP00000258930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,104,606 - 78,131,445 (-)Ensembl
RefSeq Acc Id: ENST00000539011   ⟹   ENSP00000442459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,104,649 - 78,131,535 (-)Ensembl
RefSeq Acc Id: ENST00000557818   ⟹   ENSP00000453654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,105,188 - 78,111,266 (-)Ensembl
RefSeq Acc Id: ENST00000557846   ⟹   ENSP00000453488
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,105,012 - 78,131,433 (-)Ensembl
RefSeq Acc Id: ENST00000557917   ⟹   ENSP00000453963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,105,284 - 78,131,271 (-)Ensembl
RefSeq Acc Id: ENST00000559054   ⟹   ENSP00000453377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,109,288 - 78,131,271 (-)Ensembl
RefSeq Acc Id: ENST00000559645   ⟹   ENSP00000452980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,105,854 - 78,131,235 (-)Ensembl
RefSeq Acc Id: ENST00000560618   ⟹   ENSP00000452752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,105,490 - 78,131,263 (-)Ensembl
RefSeq Acc Id: ENST00000561190   ⟹   ENSP00000453256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,105,299 - 78,131,225 (-)Ensembl
RefSeq Acc Id: ENST00000643268   ⟹   ENSP00000494155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,105,147 - 78,111,251 (-)Ensembl
RefSeq Acc Id: NM_001271888   ⟹   NP_001258817
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,104,606 - 78,131,445 (-)NCBI
HuRef1555,154,506 - 55,181,422 (-)NCBI
CHM1_11578,514,886 - 78,541,781 (-)NCBI
T2T-CHM13v2.01575,967,162 - 75,994,011 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001271889   ⟹   NP_001258818
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,104,606 - 78,131,445 (-)NCBI
HuRef1555,154,506 - 55,181,422 (-)NCBI
CHM1_11578,514,886 - 78,541,781 (-)NCBI
T2T-CHM13v2.01575,967,162 - 75,994,011 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001301224   ⟹   NP_001288153
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,104,606 - 78,131,445 (-)NCBI
CHM1_11578,514,886 - 78,541,781 (-)NCBI
T2T-CHM13v2.01575,967,162 - 75,994,011 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006383   ⟹   NP_006374
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,104,606 - 78,131,445 (-)NCBI
GRCh371578,396,948 - 78,423,877 (-)NCBI
Build 361576,184,046 - 76,210,933 (-)NCBI Archive
Celera1555,333,003 - 55,359,888 (-)RGD
HuRef1555,154,506 - 55,181,422 (-)NCBI
CHM1_11578,514,886 - 78,541,781 (-)NCBI
T2T-CHM13v2.01575,967,162 - 75,994,011 (-)NCBI
Sequence:
RefSeq Acc Id: NR_125435
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,104,606 - 78,131,535 (-)NCBI
CHM1_11578,514,886 - 78,541,781 (-)NCBI
T2T-CHM13v2.01575,967,162 - 75,994,101 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005254126   ⟹   XP_005254183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,105,339 - 78,131,535 (-)NCBI
GRCh371578,396,948 - 78,423,877 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521161   ⟹   XP_011519463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,105,339 - 78,123,725 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047432110   ⟹   XP_047288066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,109,235 - 78,131,535 (-)NCBI
RefSeq Acc Id: XM_054377207   ⟹   XP_054233182
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01575,967,894 - 75,994,101 (-)NCBI
RefSeq Acc Id: XM_054377208   ⟹   XP_054233183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01575,971,789 - 75,994,101 (-)NCBI
RefSeq Acc Id: XM_054377209   ⟹   XP_054233184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01575,967,894 - 75,986,291 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_006374   ⟸   NM_006383
- Peptide Label: isoform 1
- UniProtKB: H0YM71 (UniProtKB/Swiss-Prot),   B4DDF0 (UniProtKB/Swiss-Prot),   Q05BT6 (UniProtKB/Swiss-Prot),   O75838 (UniProtKB/Swiss-Prot),   Q5TZX7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001258818   ⟸   NM_001271889
- Peptide Label: isoform 3
- UniProtKB: O75838 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001258817   ⟸   NM_001271888
- Peptide Label: isoform 2
- UniProtKB: O75838 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005254183   ⟸   XM_005254126
- Peptide Label: isoform X1
- UniProtKB: Q5TZX7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001288153   ⟸   NM_001301224
- Peptide Label: isoform 4
- UniProtKB: O75838 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011519463   ⟸   XM_011521161
- Peptide Label: isoform X3
- UniProtKB: H0YKC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000453963   ⟸   ENST00000557917
RefSeq Acc Id: ENSP00000453488   ⟸   ENST00000557846
RefSeq Acc Id: ENSP00000453654   ⟸   ENST00000557818
RefSeq Acc Id: ENSP00000452980   ⟸   ENST00000559645
RefSeq Acc Id: ENSP00000453377   ⟸   ENST00000559054
RefSeq Acc Id: ENSP00000258930   ⟸   ENST00000258930
RefSeq Acc Id: ENSP00000452752   ⟸   ENST00000560618
RefSeq Acc Id: ENSP00000453256   ⟸   ENST00000561190
RefSeq Acc Id: ENSP00000442459   ⟸   ENST00000539011
RefSeq Acc Id: ENSP00000494155   ⟸   ENST00000643268
RefSeq Acc Id: XP_047288066   ⟸   XM_047432110
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054233182   ⟸   XM_054377207
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054233184   ⟸   XM_054377209
- Peptide Label: isoform X3
- UniProtKB: H0YKC8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233183   ⟸   XM_054377208
- Peptide Label: isoform X2
Protein Domains
EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75838-F1-model_v2 AlphaFold O75838 1-187 view protein structure

Promoters
RGD ID:6792178
Promoter ID:HG_KWN:22029
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000289798,   UC002BDC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361576,210,761 - 76,211,261 (-)MPROMDB
RGD ID:7230217
Promoter ID:EPDNEW_H20854
Type:initiation region
Name:CIB2_1
Description:calcium and integrin binding family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20855  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,131,445 - 78,131,505EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24579 AgrOrtholog
COSMIC CIB2 COSMIC
Ensembl Genes ENSG00000136425 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000258930 ENTREZGENE
  ENST00000258930.8 UniProtKB/Swiss-Prot
  ENST00000539011 ENTREZGENE
  ENST00000539011.5 UniProtKB/Swiss-Prot
  ENST00000557818.1 UniProtKB/TrEMBL
  ENST00000557846 ENTREZGENE
  ENST00000557846.5 UniProtKB/Swiss-Prot
  ENST00000557917.5 UniProtKB/TrEMBL
  ENST00000559054.1 UniProtKB/TrEMBL
  ENST00000559645.1 UniProtKB/TrEMBL
  ENST00000560618 ENTREZGENE
  ENST00000560618.5 UniProtKB/TrEMBL
  ENST00000561190.5 UniProtKB/TrEMBL
  ENST00000643268.1 UniProtKB/TrEMBL
Gene3D-CATH EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000136425 GTEx
HGNC ID HGNC:24579 ENTREZGENE
Human Proteome Map CIB2 Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10518 UniProtKB/Swiss-Prot
NCBI Gene 10518 ENTREZGENE
OMIM 605564 OMIM
PANTHER CALCIUM AND INTEGRIN BINDING FAMILY MEMBER 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CALCIUM AND INTEGRIN-BINDING FAMILY MEMBER 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EF-hand_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134927274 PharmGKB
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EFh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y4Y2_HUMAN UniProtKB/TrEMBL
  B4DDF0 ENTREZGENE
  CIB2_HUMAN UniProtKB/Swiss-Prot
  H0YKC8 ENTREZGENE, UniProtKB/TrEMBL
  H0YKX8_HUMAN UniProtKB/TrEMBL
  H0YLL7_HUMAN UniProtKB/TrEMBL
  H0YLX3_HUMAN UniProtKB/TrEMBL
  H0YM71 ENTREZGENE
  H0YML3_HUMAN UniProtKB/TrEMBL
  H0YND4_HUMAN UniProtKB/TrEMBL
  O75838 ENTREZGENE
  Q05BT6 ENTREZGENE
  Q5TZX7 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B4DDF0 UniProtKB/Swiss-Prot
  H0YM71 UniProtKB/Swiss-Prot
  Q05BT6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-24 CIB2  calcium and integrin binding family member 2  DFNB48  deafness, autosomal recessive 48  Data merged from RGD:1352987 737654 PROVISIONAL