UNC13B (unc-13 homolog B) - Rat Genome Database

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Gene: UNC13B (unc-13 homolog B) Homo sapiens
Analyze
Symbol: UNC13B
Name: unc-13 homolog B
RGD ID: 734027
HGNC Page HGNC:12566
Description: Enables GTP-dependent protein binding activity. Involved in several processes, including acrosomal vesicle exocytosis; cellular response to glucose stimulus; and positive regulation of protein secretion. Located in Golgi apparatus; cytosol; and membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: hmunc13; homolog of rat Munc13 (diacylglycerol-binding); MGC133279; MGC133280; MUNC13; munc13-2; unc-13 homolog B (C. elegans); unc-13-like; UNC13; UNC13-like; Unc13h2
RGD Orthologs
Mouse
Rat
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
GRCh38935,162,009 - 35,405,335 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl935,161,992 - 35,405,338 (+)EnsemblGRCh38hg38GRCh38
GRCh37935,162,006 - 35,405,332 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,151,989 - 35,395,332 (+)NCBINCBI36Build 36hg18NCBI36
Build 34935,152,058 - 35,395,331NCBI
Celera935,093,995 - 35,337,320 (+)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef935,117,517 - 35,359,509 (+)NCBIHuRef
CHM1_1935,161,866 - 35,405,103 (+)NCBICHM1_1
T2T-CHM13v2.0935,181,209 - 35,424,479 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:8999968   PMID:9195900   PMID:9607201   PMID:9704016   PMID:9736751   PMID:10233166   PMID:10488064   PMID:11343654   PMID:11797009   PMID:12163476   PMID:12477932   PMID:12871971  
PMID:14593078   PMID:15217342   PMID:15342556   PMID:16138900   PMID:16169070   PMID:16344560   PMID:18633107   PMID:19492809   PMID:19615732   PMID:19641095   PMID:20379614   PMID:21812969  
PMID:21873635   PMID:22248876   PMID:22990118   PMID:24043286   PMID:24854537   PMID:26167880   PMID:26389662   PMID:26990377   PMID:27432908   PMID:28514442   PMID:29229926   PMID:29485200  
PMID:29507755   PMID:30117296   PMID:31713534   PMID:32134975   PMID:32296183   PMID:32460013   PMID:33876820   PMID:33961781   PMID:34079125   PMID:35135883   PMID:35271311   PMID:35563538  
PMID:35748872   PMID:35914814   PMID:36244648  


Genomics

Comparative Map Data
UNC13B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38935,162,009 - 35,405,335 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl935,161,992 - 35,405,338 (+)EnsemblGRCh38hg38GRCh38
GRCh37935,162,006 - 35,405,332 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,151,989 - 35,395,332 (+)NCBINCBI36Build 36hg18NCBI36
Build 34935,152,058 - 35,395,331NCBI
Celera935,093,995 - 35,337,320 (+)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef935,117,517 - 35,359,509 (+)NCBIHuRef
CHM1_1935,161,866 - 35,405,103 (+)NCBICHM1_1
T2T-CHM13v2.0935,181,209 - 35,424,479 (+)NCBIT2T-CHM13v2.0
Unc13b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39443,046,193 - 43,264,873 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl443,058,953 - 43,264,871 (+)EnsemblGRCm39 Ensembl
GRCm38443,046,193 - 43,264,873 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl443,058,953 - 43,264,871 (+)EnsemblGRCm38mm10GRCm38
MGSCv37443,071,856 - 43,277,759 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36443,080,053 - 43,285,973 (+)NCBIMGSCv36mm8
Celera443,089,000 - 43,293,387 (+)NCBICelera
Cytogenetic Map4A5NCBI
cM Map423.0NCBI
Unc13b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8562,084,809 - 62,299,884 (+)NCBIGRCr8
mRatBN7.2557,288,999 - 57,504,110 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl557,289,227 - 57,502,926 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx559,262,249 - 59,477,176 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0561,081,066 - 61,295,990 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0561,066,236 - 61,280,959 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0558,505,449 - 58,714,396 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl558,505,500 - 58,715,576 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0563,030,715 - 63,240,229 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4559,551,928 - 59,768,901 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1559,716,002 - 59,769,080 (+)NCBI
Celera555,876,984 - 56,089,901 (+)NCBICelera
Cytogenetic Map5q22NCBI
UNC13B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21189,184,307 - 89,431,211 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1989,190,246 - 89,437,207 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0935,011,350 - 35,255,148 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1935,817,353 - 36,059,895 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl935,817,353 - 36,059,894 (+)Ensemblpanpan1.1panPan2
UNC13B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11151,707,968 - 51,941,148 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1151,708,302 - 51,940,955 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1150,276,777 - 50,508,946 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01152,773,675 - 53,006,449 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1152,773,727 - 53,006,464 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11151,388,636 - 51,551,200 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01151,302,640 - 51,534,710 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01152,004,520 - 52,236,429 (+)NCBIUU_Cfam_GSD_1.0
Unc13b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947166,680,023 - 166,822,285 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365243,320,859 - 3,369,865 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UNC13B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1235,918,747 - 236,158,098 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11235,918,751 - 236,158,098 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21263,840,380 - 263,877,078 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103219228
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11245,230,661 - 45,461,934 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1245,230,659 - 45,461,339 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603842,341,062 - 42,574,219 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Unc13b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624915327,401 - 531,886 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624915327,633 - 530,522 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in UNC13B
81 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p13.3(chr9:34340255-35163258)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|See cases [RCV000053751] Chr9:34340255..35163258 [GRCh38]
Chr9:34340253..35163255 [GRCh37]
Chr9:34330253..35153255 [NCBI36]
Chr9:9p13.3		 pathogenic
NM_006377.3(UNC13B):c.1963T>G (p.Cys655Gly) single nucleotide variant Malignant melanoma [RCV000068647] Chr9:35380474 [GRCh38]
Chr9:35380471 [GRCh37]
Chr9:35370471 [NCBI36]
Chr9:9p13.3		 not provided
NM_006377.3(UNC13B):c.3159C>T (p.Val1053=) single nucleotide variant Malignant melanoma [RCV000061934] Chr9:35396573 [GRCh38]
Chr9:35396570 [GRCh37]
Chr9:35386570 [NCBI36]
Chr9:9p13.3		 not provided
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 copy number gain See cases [RCV000133829] Chr9:33225730..38529813 [GRCh38]
Chr9:33225728..38529810 [GRCh37]
Chr9:33215728..38519810 [NCBI36]
Chr9:9p13.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1 copy number loss See cases [RCV000134762] Chr9:33572681..36782015 [GRCh38]
Chr9:33572679..36782012 [GRCh37]
Chr9:33562679..36772012 [NCBI36]
Chr9:9p13.3-13.2		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11		 pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1		 likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001371189.2(UNC13B):c.12410G>A (p.Arg4137His) single nucleotide variant Inborn genetic diseases [RCV003245019] Chr9:35400369 [GRCh38]
Chr9:35400366 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 copy number gain See cases [RCV000510986] Chr9:17132123..35567051 [GRCh37]
Chr9:9p22.2-13.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_001371189.2(UNC13B):c.10537C>T (p.Arg3513Cys) single nucleotide variant Inborn genetic diseases [RCV003289921] Chr9:35381601 [GRCh38]
Chr9:35381598 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.11623C>G (p.Leu3875Val) single nucleotide variant Inborn genetic diseases [RCV003256455] Chr9:35397257 [GRCh38]
Chr9:35397254 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.9920G>A (p.Arg3307Gln) single nucleotide variant Inborn genetic diseases [RCV003296215] Chr9:35377552 [GRCh38]
Chr9:35377549 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34458984)_(35809462_?)dup duplication Hyperphosphatasia with intellectual disability syndrome 2 [RCV000540114] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
NC_000009.11:g.(?_34645556)_(36277059_?)dup duplication Anauxetic dysplasia [RCV000708053] Chr9:34645559..36277062 [GRCh38]
Chr9:34645556..36277059 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34458984)_(36277059_?)dup duplication Autosomal recessive distal spinal muscular atrophy 2 [RCV000708492] Chr9:34458984..36277059 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34458984)_(35809462_?)del deletion Hyperphosphatasia with intellectual disability syndrome 2 [RCV000708109] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3		 pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001371189.2(UNC13B):c.11535C>G (p.Phe3845Leu) single nucleotide variant not provided [RCV000961056] Chr9:35397169 [GRCh38]
Chr9:35397166 [GRCh37]
Chr9:9p13.3		 benign
NM_001371189.2(UNC13B):c.9699G>A (p.Thr3233=) single nucleotide variant not provided [RCV000965788] Chr9:35376111 [GRCh38]
Chr9:35376108 [GRCh37]
Chr9:9p13.3		 benign
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p13.3(chr9:35196492-35383530)x3 copy number gain not provided [RCV000856653] Chr9:35196492..35383530 [GRCh37]
Chr9:9p13.3		 likely benign|uncertain significance
NM_001371189.2(UNC13B):c.714C>A (p.Asp238Glu) single nucleotide variant not provided [RCV000954446] Chr9:35295883 [GRCh38]
Chr9:35295880 [GRCh37]
Chr9:9p13.3		 benign
GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3 copy number gain not provided [RCV000849826] Chr9:34542635..68210033 [GRCh37]
Chr9:9p13.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001371189.2(UNC13B):c.12269G>A (p.Arg4090Gln) single nucleotide variant Inborn genetic diseases [RCV003252121] Chr9:35399662 [GRCh38]
Chr9:35399659 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.11273A>G (p.His3758Arg) single nucleotide variant Inborn genetic diseases [RCV003270043] Chr9:35390679 [GRCh38]
Chr9:35390676 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.11422C>T (p.Pro3808Ser) single nucleotide variant Inborn genetic diseases [RCV003249801] Chr9:35396589 [GRCh38]
Chr9:35396586 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.500C>A (p.Pro167Gln) single nucleotide variant Inborn genetic diseases [RCV003291300] Chr9:35259024 [GRCh38]
Chr9:35259021 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.12046C>T (p.Arg4016Trp) single nucleotide variant Inborn genetic diseases [RCV003250912] Chr9:35399006 [GRCh38]
Chr9:35399003 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.12045C>T (p.Leu4015=) single nucleotide variant not provided [RCV000893023] Chr9:35399005 [GRCh38]
Chr9:35399002 [GRCh37]
Chr9:9p13.3		 benign
GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1 copy number loss Neurodevelopmental disorder [RCV001580195] Chr9:35059633..37660586 [GRCh37]
Chr9:9p13.3-13.2		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2		 likely pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NC_000009.11:g.(?_34459004)_(36276941_?)del deletion Hyperphosphatasia with intellectual disability syndrome 2 [RCV001382817] Chr9:34459004..36276941 [GRCh37]
Chr9:9p13.3		 pathogenic
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NC_000009.11:g.(?_32453279)_(37785041_?)dup duplication Acromesomelic dysplasia 1, Maroteaux type [RCV003109230]|Arthrogryposis, distal, type 1A [RCV003119438]|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV003119437]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109231]|Primary ciliary dyskinesia [RCV003119439]|not provided [RCV003154083] Chr9:32453279..37785041 [GRCh37]
Chr9:9p21.1-13.2		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 9p13.3(chr9:35279304-35438294) copy number loss not specified [RCV002053851] Chr9:35279304..35438294 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NC_000009.11:g.(?_34459004)_(36276941_?)dup duplication Hyperphosphatasia with intellectual disability syndrome 2 [RCV001933515] Chr9:34459004..36276941 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34370797)_(36276941_?)dup duplication Anauxetic dysplasia [RCV003114124] Chr9:34370797..36276941 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.12182C>T (p.Pro4061Leu) single nucleotide variant not provided [RCV002275609] Chr9:35399268 [GRCh38]
Chr9:35399265 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.4216G>A (p.Asp1406Asn) single nucleotide variant UNC13B-related seizure disorder [RCV002275676] Chr9:35303620 [GRCh38]
Chr9:35303617 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1		 likely pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_001371189.2(UNC13B):c.9376A>G (p.Ile3126Val) single nucleotide variant Inborn genetic diseases [RCV003279943] Chr9:35313951 [GRCh38]
Chr9:35313948 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.12007G>A (p.Ala4003Thr) single nucleotide variant Inborn genetic diseases [RCV003284848] Chr9:35398967 [GRCh38]
Chr9:35398964 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.9059G>A (p.Ser3020Asn) single nucleotide variant Inborn genetic diseases [RCV002990260] Chr9:35310517 [GRCh38]
Chr9:35310514 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.12703A>G (p.Asn4235Asp) single nucleotide variant Inborn genetic diseases [RCV002901911] Chr9:35403565 [GRCh38]
Chr9:35403562 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.12964G>T (p.Val4322Leu) single nucleotide variant Inborn genetic diseases [RCV002969675] Chr9:35403974 [GRCh38]
Chr9:35403971 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.10337G>A (p.Arg3446Gln) single nucleotide variant Inborn genetic diseases [RCV002773878] Chr9:35380601 [GRCh38]
Chr9:35380598 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.11807T>C (p.Met3936Thr) single nucleotide variant Inborn genetic diseases [RCV002906946] Chr9:35398263 [GRCh38]
Chr9:35398260 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.164G>A (p.Arg55His) single nucleotide variant Inborn genetic diseases [RCV002727727] Chr9:35236480 [GRCh38]
Chr9:35236477 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.9698C>T (p.Thr3233Met) single nucleotide variant Inborn genetic diseases [RCV002686763] Chr9:35376110 [GRCh38]
Chr9:35376107 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.602C>T (p.Pro201Leu) single nucleotide variant Inborn genetic diseases [RCV002974230] Chr9:35295771 [GRCh38]
Chr9:35295768 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.11073A>T (p.Leu3691Phe) single nucleotide variant Inborn genetic diseases [RCV002946693] Chr9:35386272 [GRCh38]
Chr9:35386269 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.130T>G (p.Ser44Ala) single nucleotide variant Inborn genetic diseases [RCV002683238] Chr9:35231197 [GRCh38]
Chr9:35231194 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.718A>G (p.Met240Val) single nucleotide variant Inborn genetic diseases [RCV002950060] Chr9:35295887 [GRCh38]
Chr9:35295884 [GRCh37]
Chr9:9p13.3		 likely benign
NM_001371189.2(UNC13B):c.257G>A (p.Arg86His) single nucleotide variant Inborn genetic diseases [RCV002662086] Chr9:35236573 [GRCh38]
Chr9:35236570 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.10081C>G (p.Leu3361Val) single nucleotide variant Inborn genetic diseases [RCV002692418] Chr9:35378312 [GRCh38]
Chr9:35378309 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.9974A>T (p.Asn3325Ile) single nucleotide variant Inborn genetic diseases [RCV002951547] Chr9:35377606 [GRCh38]
Chr9:35377603 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.12980T>C (p.Val4327Ala) single nucleotide variant Inborn genetic diseases [RCV002797941] Chr9:35403990 [GRCh38]
Chr9:35403987 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.12701A>T (p.Asn4234Ile) single nucleotide variant Inborn genetic diseases [RCV002978873] Chr9:35403563 [GRCh38]
Chr9:35403560 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.11414G>A (p.Gly3805Glu) single nucleotide variant Inborn genetic diseases [RCV002661668] Chr9:35396581 [GRCh38]
Chr9:35396578 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.10553G>A (p.Arg3518Gln) single nucleotide variant Inborn genetic diseases [RCV002956984] Chr9:35381617 [GRCh38]
Chr9:35381614 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.11358C>A (p.His3786Gln) single nucleotide variant Inborn genetic diseases [RCV002874961] Chr9:35396525 [GRCh38]
Chr9:35396522 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.10526G>T (p.Ser3509Ile) single nucleotide variant Inborn genetic diseases [RCV002696790] Chr9:35381590 [GRCh38]
Chr9:35381587 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.304G>A (p.Glu102Lys) single nucleotide variant Inborn genetic diseases [RCV002709357] Chr9:35237736 [GRCh38]
Chr9:35237733 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.9754C>T (p.Arg3252Trp) single nucleotide variant Inborn genetic diseases [RCV002987313] Chr9:35376166 [GRCh38]
Chr9:35376163 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.464A>G (p.Asn155Ser) single nucleotide variant Inborn genetic diseases [RCV002645412] Chr9:35243360 [GRCh38]
Chr9:35243357 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.10724C>T (p.Ala3575Val) single nucleotide variant Inborn genetic diseases [RCV002788381] Chr9:35382425 [GRCh38]
Chr9:35382422 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.12121G>A (p.Val4041Ile) single nucleotide variant Inborn genetic diseases [RCV002803296] Chr9:35399207 [GRCh38]
Chr9:35399204 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.193T>C (p.Trp65Arg) single nucleotide variant Inborn genetic diseases [RCV002853840] Chr9:35236509 [GRCh38]
Chr9:35236506 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.12895C>T (p.Arg4299Trp) single nucleotide variant Inborn genetic diseases [RCV002641236] Chr9:35403905 [GRCh38]
Chr9:35403902 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.10739A>G (p.Tyr3580Cys) single nucleotide variant Inborn genetic diseases [RCV002878005] Chr9:35382440 [GRCh38]
Chr9:35382437 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.9211C>G (p.Gln3071Glu) single nucleotide variant Inborn genetic diseases [RCV002717663] Chr9:35310669 [GRCh38]
Chr9:35310666 [GRCh37]
Chr9:9p13.3		 likely benign
NM_001371189.2(UNC13B):c.9719G>A (p.Cys3240Tyr) single nucleotide variant Inborn genetic diseases [RCV002719270] Chr9:35376131 [GRCh38]
Chr9:35376128 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.10148A>G (p.Lys3383Arg) single nucleotide variant Inborn genetic diseases [RCV002963806] Chr9:35378379 [GRCh38]
Chr9:35378376 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.550G>A (p.Val184Ile) single nucleotide variant Inborn genetic diseases [RCV002965994] Chr9:35295719 [GRCh38]
Chr9:35295716 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.393T>G (p.Phe131Leu) single nucleotide variant Inborn genetic diseases [RCV002960853] Chr9:35237825 [GRCh38]
Chr9:35237822 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.12040G>A (p.Val4014Ile) single nucleotide variant Inborn genetic diseases [RCV002719206] Chr9:35399000 [GRCh38]
Chr9:35398997 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.10201C>T (p.His3401Tyr) single nucleotide variant Inborn genetic diseases [RCV002678670] Chr9:35378432 [GRCh38]
Chr9:35378429 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.11552A>G (p.His3851Arg) single nucleotide variant Inborn genetic diseases [RCV002656531] Chr9:35397186 [GRCh38]
Chr9:35397183 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.12263T>C (p.Met4088Thr) single nucleotide variant Inborn genetic diseases [RCV002724860] Chr9:35399656 [GRCh38]
Chr9:35399653 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.9774C>A (p.Ser3258Arg) single nucleotide variant Inborn genetic diseases [RCV002652461] Chr9:35376186 [GRCh38]
Chr9:35376183 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.425C>A (p.Thr142Asn) single nucleotide variant Inborn genetic diseases [RCV003190430] Chr9:35243321 [GRCh38]
Chr9:35243318 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.491A>G (p.Gln164Arg) single nucleotide variant Inborn genetic diseases [RCV003185022] Chr9:35259015 [GRCh38]
Chr9:35259012 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.135G>A (p.Trp45Ter) single nucleotide variant not provided [RCV003159263] Chr9:35231202 [GRCh38]
Chr9:35231199 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.10295G>A (p.Arg3432Gln) single nucleotide variant Inborn genetic diseases [RCV003184306] Chr9:35380559 [GRCh38]
Chr9:35380556 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.11729C>A (p.Pro3910Gln) single nucleotide variant Inborn genetic diseases [RCV003198087] Chr9:35397687 [GRCh38]
Chr9:35397684 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.688G>C (p.Gly230Arg) single nucleotide variant Inborn genetic diseases [RCV003190078] Chr9:35295857 [GRCh38]
Chr9:35295854 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.9625G>A (p.Val3209Met) single nucleotide variant Inborn genetic diseases [RCV003215542] Chr9:35376037 [GRCh38]
Chr9:35376034 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.12052C>A (p.Leu4018Ile) single nucleotide variant Inborn genetic diseases [RCV003309667] Chr9:35399012 [GRCh38]
Chr9:35399009 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.256C>T (p.Arg86Cys) single nucleotide variant Inborn genetic diseases [RCV003341324] Chr9:35236572 [GRCh38]
Chr9:35236569 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.9256G>T (p.Asp3086Tyr) single nucleotide variant Inborn genetic diseases [RCV003344622] Chr9:35310714 [GRCh38]
Chr9:35310711 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.9110G>A (p.Arg3037Gln) single nucleotide variant Inborn genetic diseases [RCV003361391] Chr9:35310568 [GRCh38]
Chr9:35310565 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.12656A>G (p.His4219Arg) single nucleotide variant Inborn genetic diseases [RCV003386207] Chr9:35403518 [GRCh38]
Chr9:35403515 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.9446A>G (p.Gln3149Arg) single nucleotide variant Inborn genetic diseases [RCV003372514] Chr9:35366978 [GRCh38]
Chr9:35366975 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.12229G>A (p.Glu4077Lys) single nucleotide variant Inborn genetic diseases [RCV003348387] Chr9:35399422 [GRCh38]
Chr9:35399419 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.10384A>G (p.Thr3462Ala) single nucleotide variant Inborn genetic diseases [RCV003374611] Chr9:35381108 [GRCh38]
Chr9:35381105 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.12038G>A (p.Ser4013Asn) single nucleotide variant Inborn genetic diseases [RCV003352373] Chr9:35398998 [GRCh38]
Chr9:35398995 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.12446C>G (p.Thr4149Ser) single nucleotide variant Inborn genetic diseases [RCV003370581] Chr9:35400405 [GRCh38]
Chr9:35400402 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.11765T>C (p.Leu3922Pro) single nucleotide variant Inborn genetic diseases [RCV003377271] Chr9:35398221 [GRCh38]
Chr9:35398218 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p13.3(chr9:35145342-35512528)x1 copy number loss not provided [RCV003483066] Chr9:35145342..35512528 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_001371189.2(UNC13B):c.10251T>C (p.Asp3417=) single nucleotide variant not provided [RCV003425658] Chr9:35380515 [GRCh38]
Chr9:35380512 [GRCh37]
Chr9:9p13.3		 likely benign
NM_001371189.2(UNC13B):c.468+2T>G single nucleotide variant not provided [RCV003435767] Chr9:35243366 [GRCh38]
Chr9:35243363 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.9766C>T (p.Arg3256Cys) single nucleotide variant not provided [RCV003425657] Chr9:35376178 [GRCh38]
Chr9:35376175 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001371189.2(UNC13B):c.10516A>T (p.Ile3506Phe) single nucleotide variant not provided [RCV003435768] Chr9:35381580 [GRCh38]
Chr9:35381577 [GRCh37]
Chr9:9p13.3		 likely benign
NM_001371189.2(UNC13B):c.11452G>A (p.Val3818Met) single nucleotide variant Inborn genetic diseases [RCV003361219] Chr9:35396857 [GRCh38]
Chr9:35396854 [GRCh37]
Chr9:9p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1253
Count of miRNA genes:707
Interacting mature miRNAs:831
Transcripts:ENST00000378495, ENST00000378496, ENST00000396787, ENST00000481299, ENST00000485086
Prediction methods: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
D9S761  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,184,651 - 35,185,021UniSTSGRCh37
Build 36935,174,651 - 35,175,021RGDNCBI36
Celera935,116,660 - 35,117,013RGD
Cytogenetic Map9p13.3UniSTS
HuRef935,140,133 - 35,140,486UniSTS
Marshfield Genetic Map951.21UniSTS
Marshfield Genetic Map951.21RGD
D9S2099  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,405,108 - 35,405,250UniSTSGRCh37
Build 36935,395,108 - 35,395,250RGDNCBI36
Celera935,337,096 - 35,337,238RGD
Cytogenetic Map9p13.3UniSTS
SHGC-79407  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,343,390 - 35,343,660UniSTSGRCh37
Build 36935,333,390 - 35,333,660RGDNCBI36
Celera935,275,379 - 35,275,649RGD
Cytogenetic Map9p13.3UniSTS
HuRef935,298,943 - 35,299,213UniSTS
TNG Radiation Hybrid Map937436.0UniSTS
SHGC-142025  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,348,371 - 35,348,644UniSTSGRCh37
Build 36935,338,371 - 35,338,644RGDNCBI36
Celera935,280,360 - 35,280,633RGD
Cytogenetic Map9p13.3UniSTS
HuRef935,303,924 - 35,304,197UniSTS
TNG Radiation Hybrid Map937436.0UniSTS
G20429  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,405,089 - 35,405,309UniSTSGRCh37
Build 36935,395,089 - 35,395,309RGDNCBI36
Celera935,337,077 - 35,337,297RGD
Cytogenetic Map9p13.3UniSTS
A005R04  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,405,089 - 35,405,309UniSTSGRCh37
Build 36935,395,089 - 35,395,309RGDNCBI36
Celera935,337,077 - 35,337,297RGD
Cytogenetic Map9p13.3UniSTS
GeneMap99-GB4 RH Map9139.17UniSTS
NCBI RH Map9447.9UniSTS
UNC13B_9123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,404,587 - 35,405,400UniSTSGRCh37
Build 36935,394,587 - 35,395,400RGDNCBI36
Celera935,336,575 - 35,337,388RGD
HuRef935,358,841 - 35,359,623UniSTS
D9S1079  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,322,596 - 35,322,801UniSTSGRCh37
Build 36935,312,596 - 35,312,801RGDNCBI36
Celera935,254,585 - 35,254,790RGD
Cytogenetic Map9p13.3UniSTS
HuRef935,278,141 - 35,278,346UniSTS
Whitehead-RH Map9155.2UniSTS
Whitehead-YAC Contig Map9 UniSTS
MARC_17336-17337:1021394418:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,399,673 - 35,400,347UniSTSGRCh37
Celera935,331,661 - 35,332,335UniSTS
HuRef935,353,927 - 35,354,601UniSTS


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 adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1136 1242 851 182 125 143 2841 733 1413 291 983 1399 49 106 2021 3
Low 1295 997 869 441 884 321 1512 1458 2295 127 465 206 121 1098 767 1 1
Below cutoff 1 742 2 865 2 1 1 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_170667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF020202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL160274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW245437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP202517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP236693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD652087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA171183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA333587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF139849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000378495   ⟹   ENSP00000367756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,162,062 - 35,405,338 (+)Ensembl
RefSeq Acc Id: ENST00000378496   ⟹   ENSP00000367757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,162,104 - 35,404,054 (+)Ensembl
RefSeq Acc Id: ENST00000396787   ⟹   ENSP00000380006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,162,002 - 35,404,175 (+)Ensembl
RefSeq Acc Id: ENST00000481299   ⟹   ENSP00000489441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,396,538 - 35,399,169 (+)Ensembl
RefSeq Acc Id: ENST00000485086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,227,798 - 35,243,350 (+)Ensembl
RefSeq Acc Id: ENST00000617908   ⟹   ENSP00000484432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,161,992 - 35,405,334 (+)Ensembl
RefSeq Acc Id: ENST00000619578   ⟹   ENSP00000479261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,161,992 - 35,405,334 (+)Ensembl
RefSeq Acc Id: ENST00000634487   ⟹   ENSP00000489581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,162,104 - 35,404,054 (+)Ensembl
RefSeq Acc Id: ENST00000635942   ⟹   ENSP00000490228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,162,009 - 35,405,335 (+)Ensembl
RefSeq Acc Id: ENST00000636694   ⟹   ENSP00000490683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,341,830 - 35,405,324 (+)Ensembl
RefSeq Acc Id: ENST00000637271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,341,830 - 35,405,244 (+)Ensembl
RefSeq Acc Id: NM_001330653   ⟹   NP_001317582
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,162,009 - 35,405,335 (+)NCBI
T2T-CHM13v2.0935,181,209 - 35,424,479 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001371186   ⟹   NP_001358115
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,162,009 - 35,405,335 (+)NCBI
T2T-CHM13v2.0935,181,209 - 35,424,479 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001371187   ⟹   NP_001358116
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,341,896 - 35,405,335 (+)NCBI
T2T-CHM13v2.0935,361,040 - 35,424,479 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001371188   ⟹   NP_001358117
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,341,896 - 35,405,335 (+)NCBI
T2T-CHM13v2.0935,361,040 - 35,424,479 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001371189   ⟹   NP_001358118
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,162,009 - 35,405,335 (+)NCBI
T2T-CHM13v2.0935,181,209 - 35,424,479 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001387551   ⟹   NP_001374480
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,162,009 - 35,405,335 (+)NCBI
T2T-CHM13v2.0935,181,209 - 35,424,479 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001387553   ⟹   NP_001374482
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,227,715 - 35,405,335 (+)NCBI
T2T-CHM13v2.0935,246,898 - 35,424,479 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001387554   ⟹   NP_001374483
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,227,715 - 35,405,335 (+)NCBI
T2T-CHM13v2.0935,246,898 - 35,424,479 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001387555   ⟹   NP_001374484
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,341,896 - 35,405,335 (+)NCBI
T2T-CHM13v2.0935,361,040 - 35,424,479 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006377   ⟹   NP_006368
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,162,009 - 35,405,335 (+)NCBI
GRCh37935,161,976 - 35,405,334 (+)NCBI
Build 36935,151,989 - 35,395,332 (+)NCBI Archive
HuRef935,117,517 - 35,359,509 (+)NCBI
CHM1_1935,161,866 - 35,405,103 (+)NCBI
T2T-CHM13v2.0935,181,209 - 35,424,479 (+)NCBI
Sequence:
RefSeq Acc Id: NR_170667
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,162,009 - 35,405,335 (+)NCBI
T2T-CHM13v2.0935,181,209 - 35,424,479 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517686   ⟹   XP_011515988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,341,896 - 35,405,335 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047422600   ⟹   XP_047278556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,351,442 - 35,405,335 (+)NCBI
RefSeq Acc Id: XM_047422601   ⟹   XP_047278557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,351,442 - 35,405,335 (+)NCBI
RefSeq Acc Id: XM_047422602   ⟹   XP_047278558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,162,009 - 35,405,335 (+)NCBI
RefSeq Acc Id: XM_047422603   ⟹   XP_047278559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,162,009 - 35,405,335 (+)NCBI
RefSeq Acc Id: XM_047422604   ⟹   XP_047278560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,162,009 - 35,405,335 (+)NCBI
RefSeq Acc Id: XM_047422605   ⟹   XP_047278561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,341,896 - 35,405,335 (+)NCBI
RefSeq Acc Id: XM_054361709   ⟹   XP_054217684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,370,586 - 35,424,479 (+)NCBI
RefSeq Acc Id: XM_054361710   ⟹   XP_054217685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,370,586 - 35,424,479 (+)NCBI
RefSeq Acc Id: XM_054361711   ⟹   XP_054217686
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,181,209 - 35,424,479 (+)NCBI
RefSeq Acc Id: XM_054361712   ⟹   XP_054217687
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,181,209 - 35,424,479 (+)NCBI
RefSeq Acc Id: XM_054361713   ⟹   XP_054217688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,181,209 - 35,424,479 (+)NCBI
RefSeq Acc Id: XM_054361714   ⟹   XP_054217689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,361,040 - 35,424,479 (+)NCBI
RefSeq Acc Id: XM_054361715   ⟹   XP_054217690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,361,040 - 35,424,479 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001317582 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358115 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358116 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358117 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358118 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374480 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374482 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374483 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374484 (Get FASTA)   NCBI Sequence Viewer  
  NP_006368 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515988 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278556 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278557 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278558 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278559 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278560 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278561 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217684 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217685 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217686 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217687 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217688 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217689 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217690 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC19406 (Get FASTA)   NCBI Sequence Viewer  
  AAI11782 (Get FASTA)   NCBI Sequence Viewer  
  AAI11801 (Get FASTA)   NCBI Sequence Viewer  
  BAE06080 (Get FASTA)   NCBI Sequence Viewer  
  BAG59406 (Get FASTA)   NCBI Sequence Viewer  
  EAW58383 (Get FASTA)   NCBI Sequence Viewer  
  EAW58384 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000367756
  ENSP00000367756.3
  ENSP00000380006.1
  ENSP00000479261
  ENSP00000479261.1
  ENSP00000484432
  ENSP00000484432.1
  ENSP00000489441.1
  ENSP00000489581.1
  ENSP00000490228
  ENSP00000490228.1
  ENSP00000490683
  ENSP00000490683.1
GenBank Protein O14795 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_006368   ⟸   NM_006377
- Peptide Label: isoform 1
- UniProtKB: Q2NKJ5 (UniProtKB/Swiss-Prot),   Q5VYM8 (UniProtKB/Swiss-Prot),   O14795 (UniProtKB/Swiss-Prot),   Q4LE73 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515988   ⟸   XM_011517686
- Peptide Label: isoform X6
- UniProtKB: I6L9J0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317582   ⟸   NM_001330653
- Peptide Label: isoform 2
- UniProtKB: B1AM27 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001358118   ⟸   NM_001371189
- Peptide Label: isoform 6
- UniProtKB: A0A1B0GUS7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358115   ⟸   NM_001371186
- Peptide Label: isoform 3
- UniProtKB: Q4LE73 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358116   ⟸   NM_001371187
- Peptide Label: isoform 4
- UniProtKB: A0A1B0GVW8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358117   ⟸   NM_001371188
- Peptide Label: isoform 5
- UniProtKB: I6L9J0 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000489581   ⟸   ENST00000634487
RefSeq Acc Id: ENSP00000490228   ⟸   ENST00000635942
RefSeq Acc Id: ENSP00000490683   ⟸   ENST00000636694
RefSeq Acc Id: ENSP00000489441   ⟸   ENST00000481299
RefSeq Acc Id: ENSP00000367757   ⟸   ENST00000378496
RefSeq Acc Id: ENSP00000367756   ⟸   ENST00000378495
RefSeq Acc Id: ENSP00000484432   ⟸   ENST00000617908
RefSeq Acc Id: ENSP00000479261   ⟸   ENST00000619578
RefSeq Acc Id: ENSP00000380006   ⟸   ENST00000396787
RefSeq Acc Id: NP_001374480   ⟸   NM_001387551
- Peptide Label: isoform 7
- UniProtKB: B1AM27 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001374482   ⟸   NM_001387553
- Peptide Label: isoform 8
- UniProtKB: Q4LE73 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001374483   ⟸   NM_001387554
- Peptide Label: isoform 9
- UniProtKB: Q4LE73 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001374484   ⟸   NM_001387555
- Peptide Label: isoform 10
RefSeq Acc Id: XP_047278558   ⟸   XM_047422602
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047278559   ⟸   XM_047422603
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047278560   ⟸   XM_047422604
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047278561   ⟸   XM_047422605
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047278556   ⟸   XM_047422600
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047278557   ⟸   XM_047422601
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054217686   ⟸   XM_054361711
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054217687   ⟸   XM_054361712
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054217688   ⟸   XM_054361713
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054217689   ⟸   XM_054361714
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054217690   ⟸   XM_054361715
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054217684   ⟸   XM_054361709
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054217685   ⟸   XM_054361710
- Peptide Label: isoform X2
Protein Domains
C2   MHD1   MHD2   Phorbol-ester/DAG-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14795-F1-model_v2 AlphaFold O14795 1-1591 view protein structure

Promoters
RGD ID:6808397
Promoter ID:HG_KWN:63066
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000396787,   OTTHUMT00000052296,   UC003ZWR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,151,719 - 35,152,219 (+)MPROMDB
RGD ID:7214991
Promoter ID:EPDNEW_H13241
Type:initiation region
Name:UNC13B_1
Description:unc-13 homolog B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,162,023 - 35,162,083EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12566 AgrOrtholog
COSMIC UNC13B COSMIC
Ensembl Genes ENSG00000198722 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000378495 ENTREZGENE
  ENST00000378495.7 UniProtKB/Swiss-Prot
  ENST00000396787.5 UniProtKB/TrEMBL
  ENST00000481299.1 UniProtKB/TrEMBL
  ENST00000617908 ENTREZGENE
  ENST00000617908.4 UniProtKB/TrEMBL
  ENST00000619578 ENTREZGENE
  ENST00000619578.4 UniProtKB/Swiss-Prot
  ENST00000634487.1 UniProtKB/TrEMBL
  ENST00000635942 ENTREZGENE
  ENST00000635942.2 UniProtKB/TrEMBL
  ENST00000636694 ENTREZGENE
  ENST00000636694.1 UniProtKB/TrEMBL
  ENST00000637271 ENTREZGENE
Gene3D-CATH 1.10.357.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.58.1100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.60.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198722 GTEx
HGNC ID HGNC:12566 ENTREZGENE
Human Proteome Map UNC13B Human Proteome Map
InterPro C1-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CAPS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Munc13_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Munc13_dom-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PE/DAG-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Unc-13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Unc-13_C2B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10497 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10497 ENTREZGENE
OMIM 605836 OMIM
PANTHER PROTEIN UNC-13 HOMOLOG B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10480 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam C1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF1041 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00168 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37203 PharmGKB
PRINTS C2DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE MHD1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MHD2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50004 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_DAG_PE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_DAG_PE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DUF1041 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00109 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49562 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57889 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0U1RRB5_HUMAN UniProtKB/TrEMBL
  A0A0U1RRL2_HUMAN UniProtKB/TrEMBL
  A0A1B0GUS7 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GVW8 ENTREZGENE, UniProtKB/TrEMBL
  B1AM27 ENTREZGENE, UniProtKB/TrEMBL
  I6L9J0 ENTREZGENE, UniProtKB/TrEMBL
  O14795 ENTREZGENE
  Q2NKJ5 ENTREZGENE
  Q4LE73 ENTREZGENE, UniProtKB/TrEMBL
  Q5VYM8 ENTREZGENE
  UN13B_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q2NKJ5 UniProtKB/Swiss-Prot
  Q5VYM8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-28 UNC13B  unc-13 homolog B  UNC13B  unc-13 homolog B (C. elegans)  Symbol and/or name change 5135510 APPROVED