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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SHOC1 | Human | spermatogenic failure 75 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SHOC1 | Human | spermatogenic failure 75 | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:12477932 | PMID:14702039 | PMID:15164053 | PMID:16344560 | PMID:18812090 | PMID:19490893 | PMID:21771883 | PMID:21873635 | PMID:29742103 | PMID:29987050 | PMID:32900840 | PMID:34349018 |
PMID:35485979 | PMID:37433992 |
SHOC1 (Homo sapiens - human) |
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Shoc1 (Mus musculus - house mouse) |
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Shoc1 (Rattus norvegicus - Norway rat) |
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Shoc1 (Chinchilla lanigera - long-tailed chinchilla) |
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SHOC1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SHOC1 (Canis lupus familiaris - dog) |
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Shoc1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SHOC1 (Sus scrofa - pig) |
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SHOC1 (Chlorocebus sabaeus - green monkey) |
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Shoc1 (Heterocephalus glaber - naked mole-rat) |
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Variants in SHOC1
20 total 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 9q31.1-32(chr9:106443221-115687164)x1 | copy number loss | ZNF462-related disorder [RCV004820979] | Chr9:106443221..115687164 [GRCh37] Chr9:9q31.1-32 |
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 | SHOC1-related condition [RCV004758882]|Spermatogenic failure 75 [RCV002261463] | Chr9:111727693 [GRCh38] Chr9:114489973 [GRCh37] Chr9:9q31.3 |
pathogenic|likely 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 |
NM_001378211.1(SHOC1):c.437A>G (p.Asn146Ser) | single nucleotide variant | Inborn genetic diseases [RCV004451199] | Chr9:111775796 [GRCh38] Chr9:114538076 [GRCh37] Chr9:9q31.3 |
uncertain significance |
NM_001378211.1(SHOC1):c.4108C>T (p.His1370Tyr) | single nucleotide variant | Inborn genetic diseases [RCV004451203] | Chr9:111691869 [GRCh38] Chr9:114454149 [GRCh37] Chr9:9q31.3 |
uncertain significance |
NM_001378211.1(SHOC1):c.4321A>G (p.Lys1441Glu) | single nucleotide variant | Inborn genetic diseases [RCV004451207] | Chr9:111691656 [GRCh38] Chr9:114453936 [GRCh37] Chr9:9q31.3 |
uncertain significance |
NM_001378211.1(SHOC1):c.4438T>C (p.Ser1480Pro) | single nucleotide variant | Inborn genetic diseases [RCV004451208] | Chr9:111686859 [GRCh38] Chr9:114449139 [GRCh37] Chr9:9q31.3 |
uncertain significance |
NM_001378211.1(SHOC1):c.616G>C (p.Glu206Gln) | single nucleotide variant | Inborn genetic diseases [RCV004451209] | Chr9:111758176 [GRCh38] Chr9:114520456 [GRCh37] Chr9:9q31.3 |
uncertain significance |
NM_001378211.1(SHOC1):c.4295G>A (p.Arg1432His) | single nucleotide variant | Inborn genetic diseases [RCV004451204] | Chr9:111691682 [GRCh38] Chr9:114453962 [GRCh37] Chr9:9q31.3 |
uncertain significance |
NM_001378211.1(SHOC1):c.2104A>G (p.Lys702Glu) | single nucleotide variant | Inborn genetic diseases [RCV004451198] | Chr9:111722436 [GRCh38] Chr9:114484716 [GRCh37] Chr9:9q31.3 |
uncertain significance |
NM_001378211.1(SHOC1):c.3090G>T (p.Glu1030Asp) | single nucleotide variant | Inborn genetic diseases [RCV004451201] | Chr9:111700047 [GRCh38] Chr9:114462327 [GRCh37] Chr9:9q31.3 |
uncertain significance |
NM_001378211.1(SHOC1):c.2677A>G (p.Lys893Glu) | single nucleotide variant | Inborn genetic diseases [RCV004451200] | Chr9:111706628 [GRCh38] Chr9:114468908 [GRCh37] Chr9:9q31.3 |
likely benign |
NM_001378211.1(SHOC1):c.4001C>G (p.Ala1334Gly) | single nucleotide variant | Inborn genetic diseases [RCV004451202] | Chr9:111691976 [GRCh38] Chr9:114454256 [GRCh37] Chr9:9q31.3 |
uncertain significance |
NM_001378211.1(SHOC1):c.1543del (p.Ser515fs) | deletion | Male infertility [RCV004701882] | Chr9:111727924 [GRCh38] Chr9:114490204 [GRCh37] Chr9:9q31.3 |
pathogenic |
NM_001378211.1(SHOC1):c.1539T>A (p.Cys513Ter) | single nucleotide variant | Male infertility [RCV004701883] | Chr9:111727928 [GRCh38] Chr9:114490208 [GRCh37] Chr9:9q31.3 |
pathogenic |
NM_001378211.1(SHOC1):c.2131+2T>C | single nucleotide variant | Male infertility [RCV004701881] | Chr9:111722407 [GRCh38] Chr9:114484687 [GRCh37] Chr9:9q31.3 |
pathogenic |
NM_001378211.1(SHOC1):c.1137_1140del (p.Glu379fs) | deletion | Male infertility [RCV004701884] | Chr9:111741510..111741513 [GRCh38] Chr9:114503790..114503793 [GRCh37] Chr9:9q31.3 |
pathogenic |
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. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
G31134 |
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SGC38204 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
|
sensory system
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1159 | 2285 | 2424 | 2046 | 4688 | 1604 | 2165 | 3 | 518 | 1706 | 359 | 2134 | 6338 | 5957 | 26 | 3530 | 804 | 1677 | 1539 | 170 |
Ensembl Acc Id: | ENST00000318737 ⟹ ENSP00000322108 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000374283 ⟹ ENSP00000363401 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000374287 ⟹ ENSP00000363405 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000394777 ⟹ ENSP00000378257 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000394779 ⟹ ENSP00000378259 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000682074 ⟹ ENSP00000507064 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000682571 ⟹ ENSP00000507667 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000682672 ⟹ ENSP00000508252 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000682961 ⟹ ENSP00000508388 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000683745 ⟹ ENSP00000508033 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000683944 ⟹ ENSP00000507813 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001080551 ⟹ NP_001074020 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001378211 ⟹ NP_001365140 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001378212 ⟹ NP_001365141 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_173521 ⟹ NP_775792 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_109816 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_006716975 ⟹ XP_006717038 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011518302 ⟹ XP_011516604 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011518303 ⟹ XP_011516605 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011518306 ⟹ XP_011516608 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011518309 ⟹ XP_011516611 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017014340 ⟹ XP_016869829 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017014341 ⟹ XP_016869830 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047422865 ⟹ XP_047278821 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047422866 ⟹ XP_047278822 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047422867 ⟹ XP_047278823 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047422868 ⟹ XP_047278824 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054362153 ⟹ XP_054218128 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054362154 ⟹ XP_054218129 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054362155 ⟹ XP_054218130 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054362156 ⟹ XP_054218131 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054362157 ⟹ XP_054218132 | ||||||||
Type: | CODING | ||||||||
Position: |
|
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) |
Ensembl Acc Id: | ENSP00000363401 ⟸ ENST00000374283 |
Ensembl Acc Id: | ENSP00000363405 ⟸ ENST00000374287 |
Ensembl Acc Id: | ENSP00000378259 ⟸ ENST00000394779 |
Ensembl Acc Id: | ENSP00000378257 ⟸ ENST00000394777 |
Ensembl Acc Id: | ENSP00000322108 ⟸ ENST00000318737 |
Ensembl Acc Id: | ENSP00000508388 ⟸ ENST00000682961 |
Ensembl Acc Id: | ENSP00000507667 ⟸ ENST00000682571 |
Ensembl Acc Id: | ENSP00000508033 ⟸ ENST00000683745 |
Ensembl Acc Id: | ENSP00000508252 ⟸ ENST00000682672 |
Ensembl Acc Id: | ENSP00000507064 ⟸ ENST00000682074 |
Ensembl 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 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q5VXU9-F1-model_v2 | AlphaFold | Q5VXU9 | 1-1444 | view protein structure |
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: |
|
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: |
|
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 |
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 |