SHOC1 (shortage in chiasmata 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: SHOC1 (shortage in chiasmata 1) Homo sapiens
Analyze
Symbol: SHOC1
Name: shortage in chiasmata 1
RGD ID: 1351188
HGNC Page HGNC:26535
Description: Enables ATP hydrolysis activity and single-stranded DNA binding activity. Predicted to be involved in resolution of meiotic recombination intermediates and synaptonemal complex assembly. Predicted to be located in chromosome. Predicted to be active in condensed nuclear chromosome. Implicated in spermatogenic failure.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C9orf84; chromosome 9 open reading frame 84; FLJ32779; FLJ44067; hypothetical protein LOC158401; MGC43661; MZIP2; SPGF75; uncharacterized protein C9orf84; ZIP2; Zip2 homolog; ZIP2H
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
GRCh389111,686,171 - 111,794,937 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9111,686,171 - 111,795,008 (-)EnsemblGRCh38hg38GRCh38
GRCh379114,448,451 - 114,557,217 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369113,488,722 - 113,585,600 (-)NCBINCBI36Build 36hg18NCBI36
Build 349111,579,727 - 111,636,778NCBI
Celera984,947,957 - 85,044,839 (-)NCBICelera
Cytogenetic Map9q31.3NCBI
HuRef984,047,403 - 84,144,313 (-)NCBIHuRef
CHM1_19114,595,271 - 114,692,121 (-)NCBICHM1_1
T2T-CHM13v2.09123,857,529 - 123,984,501 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

Cellular Component
chromosome  (IEA,ISS)
condensed nuclear chromosome  (IBA,IEA,ISS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15164053   PMID:16344560   PMID:18812090   PMID:19490893   PMID:21771883   PMID:21873635   PMID:29742103   PMID:29987050   PMID:32900840   PMID:35485979  


Genomics

Comparative Map Data
SHOC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389111,686,171 - 111,794,937 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9111,686,171 - 111,795,008 (-)EnsemblGRCh38hg38GRCh38
GRCh379114,448,451 - 114,557,217 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369113,488,722 - 113,585,600 (-)NCBINCBI36Build 36hg18NCBI36
Build 349111,579,727 - 111,636,778NCBI
Celera984,947,957 - 85,044,839 (-)NCBICelera
Cytogenetic Map9q31.3NCBI
HuRef984,047,403 - 84,144,313 (-)NCBIHuRef
CHM1_19114,595,271 - 114,692,121 (-)NCBICHM1_1
T2T-CHM13v2.09123,857,529 - 123,984,501 (-)NCBIT2T-CHM13v2.0
Shoc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39459,041,984 - 59,138,983 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl459,043,753 - 59,138,983 (-)EnsemblGRCm39 Ensembl
GRCm38459,041,984 - 59,138,983 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl459,043,753 - 59,138,983 (-)EnsemblGRCm38mm10GRCm38
MGSCv37459,056,739 - 59,151,855 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36459,175,184 - 59,205,167 (-)NCBIMGSCv36mm8
Celera458,954,096 - 59,020,815 (-)NCBICelera
Cytogenetic Map4B3NCBI
cM Map432.36NCBI
Shoc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8578,655,723 - 78,751,658 (-)NCBIGRCr8
mRatBN7.2573,864,423 - 73,956,487 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl573,866,334 - 73,956,444 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0576,190,486 - 76,298,723 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl576,240,167 - 76,261,198 (-)NCBIRnor6.0rn6Rnor6.0
Rnor_5.0580,334,292 - 80,442,339 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4577,093,824 - 77,164,496 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera572,686,689 - 72,778,720 (-)NCBICelera
Cytogenetic Map5q24NCBI
Shoc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541915,566,339 - 15,646,184 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541915,563,949 - 15,644,502 (+)NCBIChiLan1.0ChiLan1.0
SHOC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21127,635,179 - 27,750,951 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1927,637,541 - 27,746,362 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0982,816,269 - 82,916,515 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19110,978,485 - 111,085,856 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9110,978,485 - 111,085,856 (-)Ensemblpanpan1.1panPan2
SHOC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11166,283,093 - 66,359,674 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1166,282,572 - 66,363,922 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1164,693,808 - 64,782,060 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01167,423,406 - 67,506,405 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11165,933,499 - 66,021,936 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01165,957,013 - 66,045,252 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01166,646,988 - 66,735,531 (-)NCBIUU_Cfam_GSD_1.0
Shoc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947181,594,843 - 181,649,662 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365591,612,615 - 1,671,648 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365591,616,910 - 1,671,678 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SHOC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1252,466,222 - 252,562,066 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11252,465,893 - 252,555,063 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21283,273,032 - 283,350,699 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SHOC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11227,716,014 - 27,820,858 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1227,720,405 - 27,821,674 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603514,961,842 - 15,053,275 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Shoc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476023,249,730 - 23,332,198 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476023,220,294 - 23,332,094 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SHOC1
8 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000050315] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
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 9q22.33-33.1(chr9:99349916-115767475)x1 copy number loss See cases [RCV000052921] Chr9:99349916..115767475 [GRCh38]
Chr9:102112198..118529754 [GRCh37]
Chr9:101152019..117569575 [NCBI36]
Chr9:9q22.33-33.1		 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-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 9q22.1-32(chr9:88522292-113687796)x3 copy number gain See cases [RCV000053752] Chr9:88522292..113687796 [GRCh38]
Chr9:91137207..116450076 [GRCh37]
Chr9:90327027..115489897 [NCBI36]
Chr9:9q22.1-32		 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 9q31.1-32(chr9:103767420-112984794)x1 copy number loss See cases [RCV000134976] Chr9:103767420..112984794 [GRCh38]
Chr9:106529701..115747074 [GRCh37]
Chr9:105569522..114786895 [NCBI36]
Chr9:9q31.1-32		 pathogenic
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 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
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 9q31.2-33.1(chr9:107530314-117965944)x1 copy number loss See cases [RCV000140794] Chr9:107530314..117965944 [GRCh38]
Chr9:110292595..120728222 [GRCh37]
Chr9:109332416..119768043 [NCBI36]
Chr9:9q31.2-33.1		 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 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 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000148264] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1		 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
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
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 9q31.3-33.1(chr9:111348809-118687200)x1 copy number loss See cases [RCV000449308] Chr9:111348809..118687200 [GRCh37]
Chr9:9q31.3-33.1		 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 9q31.1-33.3(chr9:104604851-126253089)x1 copy number loss See cases [RCV000447763] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 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 9q31.3-33.2(chr9:114299780-123267736)x1 copy number loss See cases [RCV000511049] Chr9:114299780..123267736 [GRCh37]
Chr9:9q31.3-33.2		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely 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 9q31.2-32(chr9:108664157-115356416)x3 copy number gain not provided [RCV000683161] Chr9:108664157..115356416 [GRCh37]
Chr9:9q31.2-32		 likely pathogenic
GRCh37/hg19 9q31.3(chr9:114450556-114508605)x1 copy number loss not provided [RCV000683053] Chr9:114450556..114508605 [GRCh37]
Chr9:9q31.3		 uncertain significance
GRCh37/hg19 9q31.1-31.3(chr9:106487247-114541579)x1 copy number loss not provided [RCV000683163] Chr9:106487247..114541579 [GRCh37]
Chr9:9q31.1-31.3		 pathogenic
GRCh37/hg19 9q31.3-33.3(chr9:113083182-126779494)x1 copy number loss not provided [RCV000748606] Chr9:113083182..126779494 [GRCh37]
Chr9:9q31.3-33.3		 pathogenic
GRCh37/hg19 9q31.3(chr9:114424921-114480562)x3 copy number gain not provided [RCV000748614] Chr9:114424921..114480562 [GRCh37]
Chr9:9q31.3		 benign
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
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(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001378211.1(SHOC1):c.2505C>T (p.Val835=) single nucleotide variant not provided [RCV003312737] Chr9:111707908 [GRCh38]
Chr9:114470188 [GRCh37]
Chr9:9q31.3		 likely benign
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
GRCh37/hg19 9q31.3-32(chr9:113982711-117443628)x1 copy number loss not provided [RCV000847543] Chr9:113982711..117443628 [GRCh37]
Chr9:9q31.3-32		 uncertain significance
NM_001378211.1(SHOC1):c.1277_1278del (p.Glu426fs) microsatellite Non-obstructive azoospermia [RCV001648497] Chr9:111738419..111738420 [GRCh38]
Chr9:114500699..114500700 [GRCh37]
Chr9:9q31.3		 pathogenic
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089) copy number loss not specified [RCV002052825] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 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
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
GRCh37/hg19 9q31.2-32(chr9:109265628-117650999) copy number loss not specified [RCV002052828] Chr9:109265628..117650999 [GRCh37]
Chr9:9q31.2-32		 likely pathogenic
NM_001378211.1(SHOC1):c.989del (p.Leu330fs) deletion Spermatogenic failure 75 [RCV002261462] Chr9:111746324 [GRCh38]
Chr9:114508604 [GRCh37]
Chr9:9q31.3		 pathogenic
NM_001378211.1(SHOC1):c.1774C>T (p.Arg592Ter) single nucleotide variant Spermatogenic failure 75 [RCV002261463] Chr9:111727693 [GRCh38]
Chr9:114489973 [GRCh37]
Chr9:9q31.3		 pathogenic
NM_001378211.1(SHOC1):c.4466G>A (p.Arg1489His) single nucleotide variant Spermatogenic failure 75 [RCV002261468] Chr9:111686831 [GRCh38]
Chr9:114449111 [GRCh37]
Chr9:9q31.3		 pathogenic
GRCh37/hg19 9q31.3-32(chr9:113673200-115935268)x1 copy number loss See cases [RCV002286355] Chr9:113673200..115935268 [GRCh37]
Chr9:9q31.3-32		 uncertain significance
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
NM_001378211.1(SHOC1):c.1656del (p.Asp553fs) deletion Spermatogenic failure 75 [RCV002261466] Chr9:111727811 [GRCh38]
Chr9:114490091 [GRCh37]
Chr9:9q31.3		 pathogenic
NM_001378211.1(SHOC1):c.2170G>A (p.Ala724Thr) single nucleotide variant Spermatogenic failure 75 [RCV002261467] Chr9:111718250 [GRCh38]
Chr9:114480530 [GRCh37]
Chr9:9q31.3		 pathogenic
NM_001378211.1(SHOC1):c.1386del (p.Leu464fs) deletion Spermatogenic failure 75 [RCV002261465] Chr9:111738311 [GRCh38]
Chr9:114500591 [GRCh37]
Chr9:9q31.3		 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_001378211.1(SHOC1):c.423_424del (p.Leu142fs) deletion Spermatogenic failure 75 [RCV002261464] Chr9:111775809..111775810 [GRCh38]
Chr9:114538089..114538090 [GRCh37]
Chr9:9q31.3		 pathogenic
NM_001378211.1(SHOC1):c.779C>T (p.Ser260Leu) single nucleotide variant not provided [RCV003430205] Chr9:111756408 [GRCh38]
Chr9:114518688 [GRCh37]
Chr9:9q31.3		 likely benign
NM_001378211.1(SHOC1):c.1587A>G (p.Lys529=) single nucleotide variant not provided [RCV003425758] Chr9:111727880 [GRCh38]
Chr9:114490160 [GRCh37]
Chr9:9q31.3		 likely benign
NM_001378211.1(SHOC1):c.2980T>C (p.Leu994=) single nucleotide variant not provided [RCV003430204] Chr9:111702214 [GRCh38]
Chr9:114464494 [GRCh37]
Chr9:9q31.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:701
Count of miRNA genes:335
Interacting mature miRNAs:348
Transcripts:ENST00000318737, ENST00000374283, ENST00000374287, ENST00000394777, ENST00000394779
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.

Markers in Region
G31134  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379114,453,615 - 114,453,710UniSTSGRCh37
Build 369113,493,436 - 113,493,531RGDNCBI36
Celera984,952,664 - 84,952,759RGD
Cytogenetic Map9q31.3UniSTS
HuRef984,052,114 - 84,052,209UniSTS
SGC38204  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379114,557,871 - 114,558,135UniSTSGRCh37
Build 369113,597,692 - 113,597,956RGDNCBI36
Celera985,056,908 - 85,057,172RGD
Cytogenetic Map9q31.3UniSTS
HuRef984,156,156 - 84,156,420UniSTS
GeneMap99-GB4 RH Map9355.83UniSTS
Whitehead-RH Map9429.1UniSTS
NCBI RH Map9991.4UniSTS


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
High
Medium 1 14 1 2 14 368 10
Low 119 270 194 14 339 17 599 13 41 189 161 199 5 10 321 1
Below cutoff 2165 2499 1396 504 1366 342 3259 1807 3487 174 867 1328 165 1149 2103 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001080551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_109816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK057341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL135787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL704322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB066382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB088747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000318737   ⟹   ENSP00000322108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9111,686,573 - 111,783,493 (-)Ensembl
RefSeq Acc Id: ENST00000374283   ⟹   ENSP00000363401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9111,737,869 - 111,795,008 (-)Ensembl
RefSeq Acc Id: ENST00000374287   ⟹   ENSP00000363405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9111,686,519 - 111,781,129 (-)Ensembl
RefSeq Acc Id: ENST00000394777   ⟹   ENSP00000378257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9111,686,173 - 111,759,533 (-)Ensembl
RefSeq Acc Id: ENST00000394779   ⟹   ENSP00000378259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9111,686,173 - 111,759,533 (-)Ensembl
RefSeq Acc Id: ENST00000682074   ⟹   ENSP00000507064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9111,723,834 - 111,738,415 (-)Ensembl
RefSeq Acc Id: ENST00000682571   ⟹   ENSP00000507667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9111,738,463 - 111,783,493 (-)Ensembl
RefSeq Acc Id: ENST00000682672   ⟹   ENSP00000508252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9111,758,721 - 111,783,963 (-)Ensembl
RefSeq Acc Id: ENST00000682961   ⟹   ENSP00000508388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9111,686,171 - 111,794,937 (-)Ensembl
RefSeq Acc Id: ENST00000683745   ⟹   ENSP00000508033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9111,758,107 - 111,783,493 (-)Ensembl
RefSeq Acc Id: ENST00000683944   ⟹   ENSP00000507813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9111,686,519 - 111,794,932 (-)Ensembl
RefSeq Acc Id: NM_001080551   ⟹   NP_001074020
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389111,686,171 - 111,759,536 (-)NCBI
GRCh379114,448,901 - 114,557,556 (-)NCBI
Build 369113,488,722 - 113,561,634 (-)NCBI Archive
Celera984,947,957 - 85,044,839 (-)RGD
HuRef984,047,301 - 84,155,573 (-)NCBI
CHM1_19114,595,169 - 114,668,156 (-)NCBI
T2T-CHM13v2.09123,857,529 - 123,930,895 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378211   ⟹   NP_001365140
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389111,686,171 - 111,794,937 (-)NCBI
T2T-CHM13v2.09123,857,529 - 123,966,299 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378212   ⟹   NP_001365141
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389111,686,171 - 111,759,536 (-)NCBI
T2T-CHM13v2.09123,857,529 - 123,930,895 (-)NCBI
Sequence:
RefSeq Acc Id: NM_173521   ⟹   NP_775792
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389111,686,171 - 111,783,493 (-)NCBI
GRCh379114,448,901 - 114,557,556 (-)NCBI
Build 369113,488,722 - 113,585,600 (-)NCBI Archive
Celera984,947,957 - 85,044,839 (-)RGD
HuRef984,047,301 - 84,155,573 (-)NCBI
CHM1_19114,595,169 - 114,692,121 (-)NCBI
T2T-CHM13v2.09123,857,529 - 123,954,854 (-)NCBI
Sequence:
RefSeq Acc Id: NR_109816
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389111,686,171 - 111,794,937 (-)NCBI
HuRef984,047,301 - 84,155,573 (-)NCBI
CHM1_19114,595,169 - 114,703,607 (-)NCBI
T2T-CHM13v2.09123,857,529 - 123,966,299 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716975   ⟹   XP_006717038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389111,686,171 - 111,794,937 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518302   ⟹   XP_011516604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389111,686,171 - 111,783,964 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518303   ⟹   XP_011516605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389111,686,171 - 111,783,493 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518306   ⟹   XP_011516608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389111,686,171 - 111,775,915 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518309   ⟹   XP_011516611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389111,694,230 - 111,794,937 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014340   ⟹   XP_016869829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389111,686,171 - 111,794,937 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014341   ⟹   XP_016869830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389111,686,621 - 111,794,937 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047422865   ⟹   XP_047278821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389111,686,171 - 111,780,988 (-)NCBI
RefSeq Acc Id: XM_047422866   ⟹   XP_047278822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389111,693,848 - 111,794,937 (-)NCBI
RefSeq Acc Id: XM_047422867   ⟹   XP_047278823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389111,701,601 - 111,794,937 (-)NCBI
RefSeq Acc Id: XM_047422868   ⟹   XP_047278824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389111,701,601 - 111,794,937 (-)NCBI
RefSeq Acc Id: XM_054362153   ⟹   XP_054218128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09123,857,529 - 123,984,501 (-)NCBI
RefSeq Acc Id: XM_054362154   ⟹   XP_054218129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09123,857,529 - 123,955,421 (-)NCBI
RefSeq Acc Id: XM_054362155   ⟹   XP_054218130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09123,857,529 - 123,954,967 (-)NCBI
RefSeq Acc Id: XM_054362156   ⟹   XP_054218131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09123,857,529 - 123,947,271 (-)NCBI
RefSeq Acc Id: XM_054362157   ⟹   XP_054218132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09123,857,529 - 123,952,345 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001074020 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365140 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365141 (Get FASTA)   NCBI Sequence Viewer  
  NP_775792 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717038 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516604 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516605 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516608 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516611 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869829 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869830 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278821 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278822 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278823 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278824 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218128 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218129 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218130 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218131 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218132 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI12358 (Get FASTA)   NCBI Sequence Viewer  
  BAB71436 (Get FASTA)   NCBI Sequence Viewer  
  BAC86417 (Get FASTA)   NCBI Sequence Viewer  
  EAW59088 (Get FASTA)   NCBI Sequence Viewer  
  EAW59089 (Get FASTA)   NCBI Sequence Viewer  
  EAW59090 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000322108
  ENSP00000322108.4
  ENSP00000363401.5
  ENSP00000363405
  ENSP00000363405.3
  ENSP00000378257
  ENSP00000378257.4
  ENSP00000378259
  ENSP00000378259.3
  ENSP00000507064.1
  ENSP00000507667.1
  ENSP00000507813
  ENSP00000507813.1
  ENSP00000508033.1
  ENSP00000508252.1
  ENSP00000508388
  ENSP00000508388.1
GenBank Protein Q5VXU9 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_775792   ⟸   NM_173521
- Peptide Label: isoform 1
- UniProtKB: Q5VXU9 (UniProtKB/Swiss-Prot),   Q2M1H8 (UniProtKB/Swiss-Prot),   A2A2V3 (UniProtKB/Swiss-Prot),   Q96M73 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001074020   ⟸   NM_001080551
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: XP_006717038   ⟸   XM_006716975
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011516604   ⟸   XM_011518302
- Peptide Label: isoform X2
- UniProtKB: Q2M1H8 (UniProtKB/Swiss-Prot),   A2A2V3 (UniProtKB/Swiss-Prot),   Q96M73 (UniProtKB/Swiss-Prot),   Q5VXU9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011516605   ⟸   XM_011518303
- Peptide Label: isoform X2
- UniProtKB: Q2M1H8 (UniProtKB/Swiss-Prot),   A2A2V3 (UniProtKB/Swiss-Prot),   Q96M73 (UniProtKB/Swiss-Prot),   Q5VXU9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011516608   ⟸   XM_011518306
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011516611   ⟸   XM_011518309
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016869829   ⟸   XM_017014340
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016869830   ⟸   XM_017014341
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: NP_001365140   ⟸   NM_001378211
- Peptide Label: isoform 4
- UniProtKB: A0A804HLJ8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365141   ⟸   NM_001378212
- Peptide Label: isoform 5
- UniProtKB: A6PVK7 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000363401   ⟸   ENST00000374283
RefSeq Acc Id: ENSP00000363405   ⟸   ENST00000374287
RefSeq Acc Id: ENSP00000378259   ⟸   ENST00000394779
RefSeq Acc Id: ENSP00000378257   ⟸   ENST00000394777
RefSeq Acc Id: ENSP00000322108   ⟸   ENST00000318737
RefSeq Acc Id: ENSP00000508388   ⟸   ENST00000682961
RefSeq Acc Id: ENSP00000507667   ⟸   ENST00000682571
RefSeq Acc Id: ENSP00000508033   ⟸   ENST00000683745
RefSeq Acc Id: ENSP00000508252   ⟸   ENST00000682672
RefSeq Acc Id: ENSP00000507064   ⟸   ENST00000682074
RefSeq Acc Id: ENSP00000507813   ⟸   ENST00000683944
RefSeq Acc Id: XP_047278821   ⟸   XM_047422865
- Peptide Label: isoform X5
- UniProtKB: Q6ZU10 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278822   ⟸   XM_047422866
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047278824   ⟸   XM_047422868
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047278823   ⟸   XM_047422867
- Peptide Label: isoform X8
- UniProtKB: A0A804HK82 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054218128   ⟸   XM_054362153
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054218129   ⟸   XM_054362154
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218130   ⟸   XM_054362155
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218132   ⟸   XM_054362157
- Peptide Label: isoform X5
- UniProtKB: Q6ZU10 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054218131   ⟸   XM_054362156
- Peptide Label: isoform X4

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5VXU9-F1-model_v2 AlphaFold Q5VXU9 1-1444 view protein structure

Promoters
RGD ID:7215871
Promoter ID:EPDNEW_H13681
Type:multiple initiation site
Name:C9orf84_3
Description:chromosome 9 open reading frame 84
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13682  EPDNEW_H13683  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389111,783,493 - 111,783,553EPDNEW
RGD ID:7215873
Promoter ID:EPDNEW_H13682
Type:multiple initiation site
Name:C9orf84_2
Description:chromosome 9 open reading frame 84
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13681  EPDNEW_H13683  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389111,794,937 - 111,794,997EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26535 AgrOrtholog
COSMIC SHOC1 COSMIC
Ensembl Genes ENSG00000165181 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000318737 ENTREZGENE
  ENST00000318737.8 UniProtKB/Swiss-Prot
  ENST00000374283.5 UniProtKB/Swiss-Prot
  ENST00000374287 ENTREZGENE
  ENST00000374287.7 UniProtKB/Swiss-Prot
  ENST00000394777 ENTREZGENE
  ENST00000394777.8 UniProtKB/TrEMBL
  ENST00000394779 ENTREZGENE
  ENST00000394779.7 UniProtKB/Swiss-Prot
  ENST00000682074.1 UniProtKB/TrEMBL
  ENST00000682571.1 UniProtKB/TrEMBL
  ENST00000682672.1 UniProtKB/TrEMBL
  ENST00000682961 ENTREZGENE
  ENST00000682961.1 UniProtKB/TrEMBL
  ENST00000683745.1 UniProtKB/TrEMBL
  ENST00000683944 ENTREZGENE
  ENST00000683944.1 UniProtKB/TrEMBL
GTEx ENSG00000165181 GTEx
HGNC ID HGNC:26535 ENTREZGENE
Human Proteome Map SHOC1 Human Proteome Map
InterPro SHOC1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:158401 UniProtKB/TrEMBL
NCBI Gene 158401 ENTREZGENE
OMIM 618038 OMIM
PANTHER PROTEIN SHORTAGE IN CHIASMATA 1 ORTHOLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR35668 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF5587 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134876692 PharmGKB
UniProt A0A804HIH1_HUMAN UniProtKB/TrEMBL
  A0A804HJV9_HUMAN UniProtKB/TrEMBL
  A0A804HK82 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HKR0_HUMAN UniProtKB/TrEMBL
  A0A804HL92_HUMAN UniProtKB/TrEMBL
  A0A804HLJ8 ENTREZGENE, UniProtKB/TrEMBL
  A2A2V3 ENTREZGENE
  A6PVK7 ENTREZGENE, UniProtKB/TrEMBL
  Q2M1H8 ENTREZGENE
  Q5VXU9 ENTREZGENE
  Q6ZU10 ENTREZGENE, UniProtKB/TrEMBL
  Q96M73 ENTREZGENE
  SHOC1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A2A2V3 UniProtKB/Swiss-Prot
  Q2M1H8 UniProtKB/Swiss-Prot
  Q96M73 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-10-16 SHOC1  shortage in chiasmata 1  C9orf84  chromosome 9 open reading frame 84  Symbol and/or name change 5135510 APPROVED