NECAB1 (N-terminal EF-hand calcium binding protein 1) - Rat Genome Database

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Gene: NECAB1 (N-terminal EF-hand calcium binding protein 1) Homo sapiens
Analyze
Symbol: NECAB1
Name: N-terminal EF-hand calcium binding protein 1
RGD ID: 1342968
HGNC Page HGNC
Description: Exhibits identical protein binding activity. Predicted to be involved in regulation of amyloid precursor protein biosynthetic process. Localizes to cytosol and nucleoplasm; INTERACTS WITH (+)-catechin; aflatoxin B1; all-trans-retinoic acid.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: EF hand calcium binding protein 1; EF-hand calcium binding protein 1; EF-hand calcium-binding protein 1; EFCBP1; N-terminal EF-hand calcium-binding protein 1; neuronal calcium binding protein; neuronal calcium-binding protein 1; STIP-1; synaptotagmin interacting protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl890,791,741 - 90,959,393 (+)EnsemblGRCh38hg38GRCh38
GRCh38890,791,768 - 90,959,393 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37891,804,003 - 91,971,621 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36891,872,954 - 92,040,806 (+)NCBINCBI36hg18NCBI36
Build 34891,872,953 - 92,040,806NCBI
Celera887,998,620 - 88,166,361 (+)NCBI
Cytogenetic Map8q21.3NCBI
HuRef887,013,523 - 87,181,552 (+)NCBIHuRef
CHM1_1891,844,508 - 92,012,293 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,ISO,ISS)
cytosol  (IDA)
nucleoplasm  (IDA)

Molecular Function

References

Additional References at PubMed
PMID:12044471   PMID:12477932   PMID:14702039   PMID:15489334   PMID:17364817   PMID:18029348   PMID:21832049   PMID:21873635   PMID:26843217   PMID:28514442   PMID:29513927   PMID:29791485  
PMID:31536960   PMID:32296183  


Genomics

Comparative Map Data
NECAB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl890,791,741 - 90,959,393 (+)EnsemblGRCh38hg38GRCh38
GRCh38890,791,768 - 90,959,393 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37891,804,003 - 91,971,621 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36891,872,954 - 92,040,806 (+)NCBINCBI36hg18NCBI36
Build 34891,872,953 - 92,040,806NCBI
Celera887,998,620 - 88,166,361 (+)NCBI
Cytogenetic Map8q21.3NCBI
HuRef887,013,523 - 87,181,552 (+)NCBIHuRef
CHM1_1891,844,508 - 92,012,293 (+)NCBICHM1_1
Necab1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39414,952,245 - 15,149,804 (-)NCBIGRCm39mm39
GRCm39 Ensembl414,952,245 - 15,149,794 (-)Ensembl
GRCm38414,952,245 - 15,149,804 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl414,952,245 - 15,149,794 (-)EnsemblGRCm38mm10GRCm38
MGSCv37414,879,392 - 15,076,278 (-)NCBIGRCm37mm9NCBIm37
MGSCv36414,879,395 - 15,076,261 (-)NCBImm8
Celera414,753,853 - 14,952,324 (-)NCBICelera
Cytogenetic Map4A2NCBI
Necab1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2528,357,859 - 28,578,642 (-)NCBI
Rnor_6.0 Ensembl528,504,558 - 28,737,719 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0528,507,596 - 28,737,556 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0533,184,793 - 33,414,358 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4529,427,273 - 29,664,037 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1529,427,272 - 29,664,037 (-)NCBI
Celera527,607,138 - 27,808,811 (-)NCBICelera
Cytogenetic Map5q13NCBI
Necab1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554177,573,861 - 7,737,913 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554177,573,861 - 7,737,920 (+)NCBIChiLan1.0ChiLan1.0
NECAB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1889,405,495 - 89,573,788 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0887,453,523 - 87,622,800 (+)NCBIMhudiblu_PPA_v0panPan3
NECAB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12936,154,555 - 36,332,111 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2936,154,510 - 36,329,460 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2936,299,409 - 36,484,455 (+)NCBI
ROS_Cfam_1.02936,348,024 - 36,533,389 (+)NCBI
UMICH_Zoey_3.12936,346,899 - 36,553,590 (+)NCBI
UNSW_CanFamBas_1.02936,349,439 - 36,535,346 (+)NCBI
UU_Cfam_GSD_1.02936,788,023 - 36,973,627 (+)NCBI
Necab1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530343,201,181 - 43,352,967 (-)NCBI
SpeTri2.0NW_0049365444,439,739 - 4,589,060 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NECAB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl445,982,106 - 46,239,729 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1445,981,777 - 46,239,673 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2449,754,887 - 49,826,195 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NECAB1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1885,851,899 - 86,027,993 (+)NCBI
Necab1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247441,021,362 - 1,211,739 (-)NCBI

Position Markers
G32122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37891,820,387 - 91,820,541UniSTSGRCh37
Build 36891,889,563 - 91,889,717RGDNCBI36
Celera888,015,086 - 88,015,240RGD
Cytogenetic Map8q21.3UniSTS
HuRef887,029,989 - 87,030,143UniSTS
RH91928  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37891,958,866 - 91,959,006UniSTSGRCh37
Build 36892,028,042 - 92,028,182RGDNCBI36
Celera888,153,588 - 88,153,728RGD
Cytogenetic Map8q21.3UniSTS
HuRef887,168,782 - 87,168,922UniSTS
GeneMap99-GB4 RH Map8426.78UniSTS
RH93833  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37891,970,932 - 91,971,059UniSTSGRCh37
Build 36892,040,108 - 92,040,235RGDNCBI36
Celera888,165,663 - 88,165,790RGD
Cytogenetic Map8q21.3UniSTS
HuRef887,180,854 - 87,180,981UniSTS
GeneMap99-GB4 RH Map8430.32UniSTS
RH102239  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37891,969,516 - 91,969,664UniSTSGRCh37
Build 36892,038,692 - 92,038,840RGDNCBI36
Celera888,164,247 - 88,164,395RGD
Cytogenetic Map8q21.3UniSTS
HuRef887,179,438 - 87,179,586UniSTS
GeneMap99-GB4 RH Map8426.37UniSTS
G62597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37891,899,203 - 91,899,480UniSTSGRCh37
Build 36891,968,379 - 91,968,656RGDNCBI36
Celera888,093,906 - 88,094,183RGD
Cytogenetic Map8q21.3UniSTS
HuRef887,108,844 - 87,109,121UniSTS
TNG Radiation Hybrid Map844607.0UniSTS
AFMA041XG5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37891,939,809 - 91,939,939UniSTSGRCh37
Build 36892,008,985 - 92,009,115RGDNCBI36
Celera888,134,526 - 88,134,656RGD
Cytogenetic Map8q21.3UniSTS
HuRef887,149,725 - 87,149,855UniSTS
Whitehead-YAC Contig Map8 UniSTS
SHGC-172443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37891,819,438 - 91,819,761UniSTSGRCh37
Build 36891,888,614 - 91,888,937RGDNCBI36
Celera888,014,137 - 88,014,460RGD
Cytogenetic Map8q21.3UniSTS
HuRef887,029,040 - 87,029,363UniSTS
TNG Radiation Hybrid Map844570.0UniSTS
SHGC-30798  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37891,961,157 - 91,961,281UniSTSGRCh37
Build 36892,030,333 - 92,030,457RGDNCBI36
Celera888,155,883 - 88,156,007RGD
Cytogenetic Map8q21.3UniSTS
HuRef887,171,073 - 87,171,197UniSTS
GeneMap99-GB4 RH Map8426.99UniSTS
Whitehead-RH Map8537.6UniSTS
NCBI RH Map8899.7UniSTS
GeneMap99-G3 RH Map83526.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2070
Count of miRNA genes:812
Interacting mature miRNAs:924
Transcripts:ENST00000417640, ENST00000521366, ENST00000521954, ENST00000522729, ENST00000522820, ENST00000523962
Prediction methods:Miranda, Rnahybrid, Targetscan
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.


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 907 437 49 24 416 479 1879 28 223 30 14 318
Low 1213 2184 1208 209 1285 57 3204 951 1806 319 1093 1424 156 1185 1770 1
Below cutoff 211 353 419 375 512 365 711 737 29 43 82 91 12 1 5 700 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000417640   ⟹   ENSP00000387380
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl890,791,775 - 90,959,393 (+)Ensembl
RefSeq Acc Id: ENST00000521366   ⟹   ENSP00000428632
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl890,940,522 - 90,957,847 (+)Ensembl
RefSeq Acc Id: ENST00000521954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl890,791,810 - 90,903,921 (+)Ensembl
RefSeq Acc Id: ENST00000522729
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl890,791,741 - 90,825,102 (+)Ensembl
RefSeq Acc Id: ENST00000522820   ⟹   ENSP00000428953
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl890,940,192 - 90,955,818 (+)Ensembl
RefSeq Acc Id: ENST00000523962
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl890,791,810 - 90,872,479 (+)Ensembl
RefSeq Acc Id: NM_022351   ⟹   NP_071746
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38890,791,775 - 90,959,393 (+)NCBI
GRCh37891,803,921 - 91,971,630 (+)RGD
Build 36891,872,954 - 92,040,806 (+)NCBI Archive
Celera887,998,620 - 88,166,361 (+)RGD
HuRef887,013,523 - 87,181,552 (+)RGD
CHM1_1891,844,508 - 92,012,293 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517213   ⟹   XP_011515515
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38890,791,768 - 90,958,099 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_071746   ⟸   NM_022351
- UniProtKB: Q8N987 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515515   ⟸   XM_011517213
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000428632   ⟸   ENST00000521366
RefSeq Acc Id: ENSP00000387380   ⟸   ENST00000417640
RefSeq Acc Id: ENSP00000428953   ⟸   ENST00000522820
Protein Domains
ABM   EF-hand

Promoters
RGD ID:7213731
Promoter ID:EPDNEW_H12611
Type:initiation region
Name:NECAB1_2
Description:N-terminal EF-hand calcium binding protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12613  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38890,791,473 - 90,791,533EPDNEW
RGD ID:7213735
Promoter ID:EPDNEW_H12613
Type:initiation region
Name:NECAB1_1
Description:N-terminal EF-hand calcium binding protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12611  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38890,791,810 - 90,791,870EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-22.1(chr8:85835757-93610142)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053676]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053676]|See cases [RCV000053676] Chr8:85835757..93610142 [GRCh38]
Chr8:86847986..94622370 [GRCh37]
Chr8:86917086..94691546 [NCBI36]
Chr8:8q21.2-22.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1 copy number loss See cases [RCV000054261] Chr8:77765431..91839285 [GRCh38]
Chr8:78677666..92851513 [GRCh37]
Chr8:78840221..92920689 [NCBI36]
Chr8:8q21.13-21.3
pathogenic
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:90940996-94538343)x1 copy number loss See cases [RCV000054263] Chr8:90940996..94538343 [GRCh38]
Chr8:91953224..95550571 [GRCh37]
Chr8:92022400..95619747 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
NM_022351.4(NECAB1):c.233+4607A>T single nucleotide variant Lung cancer [RCV000107868] Chr8:90829432 [GRCh38]
Chr8:91841660 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_022351.4(NECAB1):c.747+1886G>C single nucleotide variant Lung cancer [RCV000107869] Chr8:90936243 [GRCh38]
Chr8:91948471 [GRCh37]
Chr8:8q21.3
uncertain significance
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q21.3(chr8:90543310-91144982)x1 copy number loss See cases [RCV000143683] Chr8:90543310..91144982 [GRCh38]
Chr8:91555538..92157210 [GRCh37]
Chr8:91624714..92226386 [NCBI36]
Chr8:8q21.3
likely benign|uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3(chr8:91080027-92129950)x3 copy number gain See cases [RCV000510205] Chr8:91080027..92129950 [GRCh37]
Chr8:8q21.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q21.3-22.1(chr8:91914994-93365750)x1 copy number loss not provided [RCV000683011] Chr8:91914994..93365750 [GRCh37]
Chr8:8q21.3-22.1
uncertain significance
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20983 AgrOrtholog
COSMIC NECAB1 COSMIC
Ensembl Genes ENSG00000123119 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000387380 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428632 UniProtKB/Swiss-Prot
  ENSP00000428953 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000417640 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000521366 UniProtKB/Swiss-Prot
  ENST00000522820 UniProtKB/Swiss-Prot
GTEx ENSG00000123119 GTEx
HGNC ID HGNC:20983 ENTREZGENE
Human Proteome Map NECAB1 Human Proteome Map
InterPro ABM_dom UniProtKB/Swiss-Prot
  Dimeric_a/b-barrel UniProtKB/Swiss-Prot
  EF-hand-dom_pair UniProtKB/Swiss-Prot
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot
  EF_hand_dom UniProtKB/Swiss-Prot
  NECAB1/2/3 UniProtKB/Swiss-Prot
KEGG Report hsa:64168 UniProtKB/Swiss-Prot
NCBI Gene 64168 ENTREZGENE
PANTHER PTHR12178 UniProtKB/Swiss-Prot
Pfam ABM UniProtKB/Swiss-Prot
  EF-hand_8 UniProtKB/Swiss-Prot
PharmGKB PA162397411 PharmGKB
PROSITE ABM UniProtKB/Swiss-Prot
  EF_HAND_1 UniProtKB/Swiss-Prot
  EF_HAND_2 UniProtKB/Swiss-Prot
SMART EFh UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot
  SSF54909 UniProtKB/Swiss-Prot
UniProt NECA1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q6NUS7 UniProtKB/Swiss-Prot
  Q96AZ7 UniProtKB/Swiss-Prot
  Q9HBW8 UniProtKB/Swiss-Prot