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Gene: AL772363.1 (novel transcript, antisense to CACNA1B and EHMT1) Homo sapiens

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Symbol:

AL772363.1

Name:

novel transcript, antisense to CACNA1B and EHMT1

RGD ID:

16551537

Description:

ASSOCIATED WITH Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements

Type:

ncrna (Ensembl: lncRNA)

RefSeq Status:

VALIDATED

Previously known as:

LOC100133077; uncharacterized LOC100133077

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38.p14 Ensembl - Human Genome Assembly GRCh38 Ensembl

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	137,867,925 - 137,892,570 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	137,867,925 - 137,892,570 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	140,762,377 - 140,787,022 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Cytogenetic Map	9	q34.3	NCBI
HuRef	9	110,230,238 - 110,255,040 (-)	NCBI		HuRef
CHM1_1	9	140,910,155 - 140,935,756 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	150,133,073 - 150,157,714 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements (IAGP)

References

Genomics

Variants

Variants in AL772363.1
59 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_000718.4(CACNA1B):c.79G>T (p.Gly27Cys)	single nucleotide variant	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV001291660]\|not provided [RCV001529644]	Chr9:137878012 [GRCh38] Chr9:140772464 [GRCh37] Chr9:9q34.3	uncertain significance
GRCh38/hg38 9q34.3(chr9:137728349-138052188)	copy number loss	Kleefstra syndrome 1 [RCV004720476]	Chr9:137728349..138052188 [GRCh38] Chr9:9q34.3	pathogenic
NM_000718.4(CACNA1B):c.385C>A (p.Arg129=)	single nucleotide variant	not provided [RCV000929206]	Chr9:137879154 [GRCh38] Chr9:140773606 [GRCh37] Chr9:9q34.3	likely benign
NC_000009.12:g.137877642C>A	single nucleotide variant	not provided [RCV001541222]	Chr9:137877642 [GRCh38] Chr9:140772094 [GRCh37] Chr9:9q34.3	benign
NM_000718.4(CACNA1B):c.285-215C>G	single nucleotide variant	not provided [RCV001645706]	Chr9:137878839 [GRCh38] Chr9:140773291 [GRCh37] Chr9:9q34.3	benign
NM_000718.4(CACNA1B):c.375C>A (p.Pro125=)	single nucleotide variant	not provided [RCV000939397]	Chr9:137879144 [GRCh38] Chr9:140773596 [GRCh37] Chr9:9q34.3	likely benign
GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	copy number gain	See cases [RCV000142955]	Chr9:133918071..138159073 [GRCh38] Chr9:136783193..141053525 [GRCh37] Chr9:135773014..140173346 [NCBI36] Chr9:9q34.2-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137484248-138179445)x1	copy number loss	See cases [RCV000052952]	Chr9:137484248..138179445 [GRCh38] Chr9:140378700..141073897 [GRCh37] Chr9:139498521..140193718 [NCBI36] Chr9:9q34.3	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 9q34.3(chr9:136323974-138124532)x1	copy number loss	See cases [RCV000051116]	Chr9:136323974..138124532 [GRCh38] Chr9:139218428..141018984 [GRCh37] Chr9:138338249..140138805 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1	copy number loss	See cases [RCV000052941]	Chr9:137215877..138138735 [GRCh38] Chr9:140110329..141033187 [GRCh37] Chr9:139230150..140153008 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	copy number gain	See cases [RCV000053814]	Chr9:134174698..138138735 [GRCh38] Chr9:137091194..141033187 [GRCh37] Chr9:136029641..140153008 [NCBI36] Chr9:9q34.2-34.3	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 9q33.2-34.3(chr9:122792658-138124532)x3	copy number gain	See cases [RCV000051040]	Chr9:122792658..138124532 [GRCh38] Chr9:125554937..141018984 [GRCh37] Chr9:124594758..140138805 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137810632-138104468)x3	copy number gain	See cases [RCV000140439]	Chr9:137810632..138104468 [GRCh38] Chr9:140705084..140998920 [GRCh37] Chr9:139824905..140118741 [NCBI36] Chr9:9q34.3	likely benign\|uncertain significance
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 9q33.2-34.3(chr9:121112395-138075224)x3	copy number gain	See cases [RCV000051009]	Chr9:121112395..138075224 [GRCh38] Chr9:123874673..140969676 [GRCh37] Chr9:122914494..140089497 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	copy number gain	See cases [RCV000134920]	Chr9:121073102..138179445 [GRCh38] Chr9:123835380..141073897 [GRCh37] Chr9:122875201..140193718 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137640712-137892491)x3	copy number gain	See cases [RCV000053815]	Chr9:137640712..137892491 [GRCh38] Chr9:140535164..140786943 [GRCh37] Chr9:139654985..139906764 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	copy number gain	See cases [RCV000139807]	Chr9:133996227..138124524 [GRCh38] Chr9:136861349..141018976 [GRCh37] Chr9:135851170..140138797 [NCBI36] Chr9:9q34.2-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	copy number loss	See cases [RCV000148284]	Chr9:136323974..138014606 [GRCh38] Chr9:139218428..140909058 [GRCh37] Chr9:138338249..140028879 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137620211-137958459)x1	copy number loss	See cases [RCV000052956]	Chr9:137620211..137958459 [GRCh38] Chr9:140514663..140852911 [GRCh37] Chr9:139634484..139972732 [NCBI36] Chr9:9q34.3	pathogenic
NM_000718.4(CACNA1B):c.30C>T (p.Gly10=)	single nucleotide variant	CACNA1B-related disorder [RCV004730942]\|not provided [RCV000415880]	Chr9:137877963 [GRCh38] Chr9:140772415 [GRCh37] Chr9:9q34.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
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(chr9:193412-138159073)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
NM_000718.4(CACNA1B):c.381C>A (p.Ser127=)	single nucleotide variant	not provided [RCV000899226]	Chr9:137879150 [GRCh38] Chr9:140773602 [GRCh37] Chr9:9q34.3	likely benign
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
NM_000718.4(CACNA1B):c.276C>A (p.Thr92=)	single nucleotide variant	not provided [RCV000943369]	Chr9:137878209 [GRCh38] Chr9:140772661 [GRCh37] Chr9:9q34.3	likely benign
GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1	copy number loss	See cases [RCV000052940]	Chr9:136926575..138114463 [GRCh38] Chr9:139821027..141008915 [GRCh37] Chr9:138940848..140128736 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1	copy number loss	See cases [RCV000142978]	Chr9:136877772..138124524 [GRCh38] Chr9:139772224..141018976 [GRCh37] Chr9:138892045..140138797 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137514943-138121473)x1	copy number loss	See cases [RCV000052953]	Chr9:137514943..138121473 [GRCh38] Chr9:140409395..141015925 [GRCh37] Chr9:139529216..140135746 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137598355-138091769)x1	copy number loss	See cases [RCV000052955]	Chr9:137598355..138091769 [GRCh38] Chr9:140492807..140986221 [GRCh37] Chr9:139612628..140106042 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	copy number gain	See cases [RCV000136790]	Chr9:132986903..138114463 [GRCh38] Chr9:135862290..141008915 [GRCh37] Chr9:134852111..140128736 [NCBI36] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	copy number gain	See cases [RCV000134916]	Chr9:129068560..138179445 [GRCh38] Chr9:131830839..141073897 [GRCh37] Chr9:130870660..140193718 [NCBI36] Chr9:9q34.11-34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	copy number gain	See cases [RCV000142636]	Chr9:132386553..138059695 [GRCh38] Chr9:135261940..140954147 [GRCh37] Chr9:134251761..140073968 [NCBI36] Chr9:9q34.13-34.3	pathogenic
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAA	insertion	not provided [RCV000887986]	Chr9:137879160..137879161 [GRCh38] Chr9:140773612..140773613 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.285-144T>G	single nucleotide variant	not provided [RCV001598377]	Chr9:137878910 [GRCh38] Chr9:140773362 [GRCh37] Chr9:9q34.3	benign
NM_000718.4(CACNA1B):c.49G>A (p.Gly17Ser)	single nucleotide variant	CACNA1B-related disorder [RCV003983992]\|not provided [RCV001598124]	Chr9:137877982 [GRCh38] Chr9:140772434 [GRCh37] Chr9:9q34.3	benign
NM_000718.4(CACNA1B):c.391-42G>C	single nucleotide variant	not provided [RCV001611396]	Chr9:137882702 [GRCh38] Chr9:140777154 [GRCh37] Chr9:9q34.3	benign
NC_000009.12:g.137877547C>T	single nucleotide variant	not provided [RCV001710129]	Chr9:137877547 [GRCh38] Chr9:140771999 [GRCh37] Chr9:9q34.3	benign
NM_000718.4(CACNA1B):c.494G>T (p.Gly165Val)	single nucleotide variant	not provided [RCV001595581]	Chr9:137882847 [GRCh38] Chr9:140777299 [GRCh37] Chr9:9q34.3	benign
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 9q34.3(chr9:137862611-138059695)x3	copy number gain	See cases [RCV000133653]	Chr9:137862611..138059695 [GRCh38] Chr9:140757063..140954147 [GRCh37] Chr9:139876884..140073968 [NCBI36] Chr9:9q34.3	benign
NC_000009.12:g.137604238_138131469dup	duplication	9q34 microduplication syndrome [RCV000851534]	Chr9:137604238..138131469 [GRCh38] Chr9:140498690..141025921 [GRCh37] Chr9:9q34.3	pathogenic
NM_000718.4(CACNA1B):c.57G>A (p.Glu19=)	single nucleotide variant	CACNA1B-related disorder [RCV003980821]\|not provided [RCV001636016]	Chr9:137877990 [GRCh38] Chr9:140772442 [GRCh37] Chr9:9q34.3	benign
NM_000718.4(CACNA1B):c.390+153C>G	single nucleotide variant	not provided [RCV001719313]	Chr9:137879312 [GRCh38] Chr9:140773764 [GRCh37] Chr9:9q34.3	benign
NC_000009.12:g.137877578C>A	single nucleotide variant	not provided [RCV001678453]	Chr9:137877578 [GRCh38] Chr9:140772030 [GRCh37] Chr9:9q34.3	benign
NM_000718.4(CACNA1B):c.391-218G>A	single nucleotide variant	not provided [RCV001637747]	Chr9:137882526 [GRCh38] Chr9:140776978 [GRCh37] Chr9:9q34.3	benign
GRCh38/hg38 9q34.3(chr9:137763015-137902180)x3	copy number gain	See cases [RCV000142761]	Chr9:137763015..137902180 [GRCh38] Chr9:140657467..140796632 [GRCh37] Chr9:139777288..139916453 [NCBI36] Chr9:9q34.3	uncertain significance
GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	copy number loss	See cases [RCV000052936]	Chr9:134428674..138154922 [GRCh38] Chr9:137320520..141049374 [GRCh37] Chr9:136460341..140169195 [NCBI36] Chr9:9q34.2-34.3	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
NM_000718.4(CACNA1B):c.284+8GCCGGGCGGG[2]	microsatellite	not provided [RCV001651457]	Chr9:137878225..137878234 [GRCh38] Chr9:140772677..140772686 [GRCh37] Chr9:9q34.3	benign
NM_000718.4(CACNA1B):c.530+212C>T	single nucleotide variant	not provided [RCV001648435]	Chr9:137883095 [GRCh38] Chr9:140777547 [GRCh37] Chr9:9q34.3	benign
NM_000718.4(CACNA1B):c.372G>T (p.Thr124=)	single nucleotide variant	not provided [RCV000922171]	Chr9:137879141 [GRCh38] Chr9:140773593 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.501C>G (p.Asn167Lys)	single nucleotide variant	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV000988319]\|not provided [RCV001712843]	Chr9:137882854 [GRCh38] Chr9:140777306 [GRCh37] Chr9:9q34.3	benign
GRCh38/hg38 9q34.3(chr9:137345965-138159083)x1	copy number loss	See cases [RCV000143327]	Chr9:137345965..138159083 [GRCh38] Chr9:140240417..141053535 [GRCh37] Chr9:139360238..140173356 [NCBI36] Chr9:9q34.3	pathogenic
NM_000718.4(CACNA1B):c.9C>T (p.Arg3=)	single nucleotide variant	not provided [RCV000932869]	Chr9:137877942 [GRCh38] Chr9:140772394 [GRCh37] Chr9:9q34.3	likely benign
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 9q34.2-34.3(chr9:133504071-138159073)x3	copy number gain	See cases [RCV000137825]	Chr9:133504071..138159073 [GRCh38] Chr9:136324358..141053525 [GRCh37] Chr9:135314179..140173346 [NCBI36] Chr9:9q34.2-34.3	pathogenic
NM_000718.4(CACNA1B):c.175T>C (p.Tyr59His)	single nucleotide variant	not provided [RCV000678357]	Chr9:137878108 [GRCh38] Chr9:140772560 [GRCh37] Chr9:9q34.3	uncertain significance
GRCh38/hg38 9q34.3(chr9:137391682-138114463)x3	copy number gain	See cases [RCV000136863]	Chr9:137391682..138114463 [GRCh38] Chr9:140286134..141008915 [GRCh37] Chr9:139405955..140128736 [NCBI36] Chr9:9q34.3	pathogenic
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGA	insertion	not provided [RCV000919220]	Chr9:137879160..137879161 [GRCh38] Chr9:140773612..140773613 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.297T>C (p.Tyr99=)	single nucleotide variant	not provided [RCV000982702]	Chr9:137879066 [GRCh38] Chr9:140773518 [GRCh37] Chr9:9q34.3	likely benign
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	copy number loss	See cases [RCV000050344]	Chr9:136323974..138014606 [GRCh38] Chr9:139218428..140909058 [GRCh37] Chr9:138338249..140028879 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	copy number gain	See cases [RCV000143394]	Chr9:135704780..138125937 [GRCh38] Chr9:138596626..141020389 [GRCh37] Chr9:137736447..140140210 [NCBI36] Chr9:9q34.3	likely pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	copy number gain	See cases [RCV000133778]	Chr9:130513207..138124532 [GRCh38] Chr9:133388594..141018984 [GRCh37] Chr9:132378415..140138805 [NCBI36] Chr9:9q34.11-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137574369-138041809)x1	copy number loss	See cases [RCV000052954]	Chr9:137574369..138041809 [GRCh38] Chr9:140468821..140936261 [GRCh37] Chr9:139588642..140056082 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137830545-138124532)x3	copy number gain	See cases [RCV000138243]	Chr9:137830545..138124532 [GRCh38] Chr9:140724997..141018984 [GRCh37] Chr9:139844818..140138805 [NCBI36] Chr9:9q34.3	uncertain significance
NM_000718.4(CACNA1B):c.391-34G>T	single nucleotide variant	not provided [RCV001642060]	Chr9:137882710 [GRCh38] Chr9:140777162 [GRCh37] Chr9:9q34.3	benign
NM_000718.4(CACNA1B):c.391-91A>C	single nucleotide variant	not provided [RCV001539721]	Chr9:137882653 [GRCh38] Chr9:140777105 [GRCh37] Chr9:9q34.3	benign
NC_000009.12:g.137877731C>T	single nucleotide variant	not provided [RCV001786795]	Chr9:137877731 [GRCh38] Chr9:140772183 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCA	insertion	not provided [RCV001354706]	Chr9:137879160..137879161 [GRCh38] Chr9:140773612..140773613 [GRCh37] Chr9:9q34.3	likely pathogenic
NM_000718.4(CACNA1B):c.284+124G>C	single nucleotide variant	not provided [RCV001687971]	Chr9:137878341 [GRCh38] Chr9:140772793 [GRCh37] Chr9:9q34.3	benign
NM_000718.4(CACNA1B):c.530+209T>C	single nucleotide variant	not provided [RCV001536678]	Chr9:137883092 [GRCh38] Chr9:140777544 [GRCh37] Chr9:9q34.3	benign
NM_000718.4(CACNA1B):c.18C>T (p.Asp6=)	single nucleotide variant	CACNA1B-related disorder [RCV003911011]\|not provided [RCV001779602]	Chr9:137877951 [GRCh38] Chr9:140772403 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.284_284+1insTCCATTCGAGT	insertion	not provided [RCV001776597]	Chr9:137878217..137878218 [GRCh38] Chr9:140772669..140772670 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.228C>G (p.Phe76Leu)	single nucleotide variant	not provided [RCV001758978]	Chr9:137878161 [GRCh38] Chr9:140772613 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.285-140G>A	single nucleotide variant	not provided [RCV001774991]	Chr9:137878914 [GRCh38] Chr9:140773366 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.63C>T (p.Ala21=)	single nucleotide variant	CACNA1B-related disorder [RCV003968571]\|not provided [RCV001816524]	Chr9:137877996 [GRCh38] Chr9:140772448 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.92G>T (p.Gly31Val)	single nucleotide variant	not provided [RCV001759035]	Chr9:137878025 [GRCh38] Chr9:140772477 [GRCh37] Chr9:9q34.3	benign\|likely benign
NM_000718.4(CACNA1B):c.390+201G>A	single nucleotide variant	not provided [RCV002292066]	Chr9:137879360 [GRCh38] Chr9:140773812 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.95C>T (p.Pro32Leu)	single nucleotide variant	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [RCV002295368]	Chr9:137878028 [GRCh38] Chr9:140772480 [GRCh37] Chr9:9q34.3	uncertain significance
NM_000718.4(CACNA1B):c.149C>T (p.Ala50Val)	single nucleotide variant	not specified [RCV004182646]	Chr9:137878082 [GRCh38] Chr9:140772534 [GRCh37] Chr9:9q34.3	uncertain significance
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCT	insertion	not provided [RCV002967856]	Chr9:137879160..137879161 [GRCh38] Chr9:140773612..140773613 [GRCh37] Chr9:9q34.3	uncertain significance
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATC	insertion	not provided [RCV002948147]	Chr9:137879160..137879161 [GRCh38] Chr9:140773612..140773613 [GRCh37] Chr9:9q34.3	uncertain significance
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCATCGCTCTGGGCTTTGTCTTCCACAAGGGCTCT	insertion	not provided [RCV002907969]	Chr9:137879160..137879161 [GRCh38] Chr9:140773612..140773613 [GRCh37] Chr9:9q34.3	uncertain significance
NM_000718.4(CACNA1B):c.148G>T (p.Ala50Ser)	single nucleotide variant	not specified [RCV004233381]	Chr9:137878081 [GRCh38] Chr9:140772533 [GRCh37] Chr9:9q34.3	uncertain significance
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTA	insertion	not provided [RCV002975092]	Chr9:137879160..137879161 [GRCh38] Chr9:140773612..140773613 [GRCh37] Chr9:9q34.3	uncertain significance
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCG	microsatellite	not provided [RCV002886563]	Chr9:137879159..137879160 [GRCh38] Chr9:140773611..140773612 [GRCh37] Chr9:9q34.3	uncertain significance
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCATCGCTC	insertion	not provided [RCV002913152]	Chr9:137879160..137879161 [GRCh38] Chr9:140773612..140773613 [GRCh37] Chr9:9q34.3	uncertain significance
NM_000718.4(CACNA1B):c.488G>A (p.Arg163Gln)	single nucleotide variant	not specified [RCV004233459]	Chr9:137882841 [GRCh38] Chr9:140777293 [GRCh37] Chr9:9q34.3	uncertain significance
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCATCGCTCTGGGCTTTGTCT	insertion	not provided [RCV002885784]	Chr9:137879160..137879161 [GRCh38] Chr9:140773612..140773613 [GRCh37] Chr9:9q34.3	uncertain significance
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCATCGCTCTGGGCTTTGTC	insertion	not provided [RCV002801131]	Chr9:137879160..137879161 [GRCh38] Chr9:140773612..140773613 [GRCh37] Chr9:9q34.3	uncertain significance
NM_000718.4(CACNA1B):c.262G>C (p.Ala88Pro)	single nucleotide variant	not specified [RCV004136407]	Chr9:137878195 [GRCh38] Chr9:140772647 [GRCh37] Chr9:9q34.3	uncertain significance
NM_000718.4(CACNA1B):c.390+1_390+2insCCGACACGGAGCCC	insertion	not provided [RCV002938176]	Chr9:137879160..137879161 [GRCh38] Chr9:140773612..140773613 [GRCh37] Chr9:9q34.3	uncertain significance
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCTTT	insertion	not provided [RCV002877612]	Chr9:137879160..137879161 [GRCh38] Chr9:140773612..140773613 [GRCh37] Chr9:9q34.3	uncertain significance
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATT	insertion	not provided [RCV002966721]	Chr9:137879160..137879161 [GRCh38] Chr9:140773612..140773613 [GRCh37] Chr9:9q34.3	uncertain significance
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCATCGCTCTGGGCTTTGTCTTCCACAAGGGCTC	insertion	not provided [RCV002857082]	Chr9:137879160..137879161 [GRCh38] Chr9:140773612..140773613 [GRCh37] Chr9:9q34.3	uncertain significance
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCC	insertion	not provided [RCV003227381]	Chr9:137879160..137879161 [GRCh38] Chr9:140773612..140773613 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.102C>A (p.Pro34=)	single nucleotide variant	not provided [RCV003327231]	Chr9:137878035 [GRCh38] Chr9:140772487 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.6C>G (p.Val2=)	single nucleotide variant	not provided [RCV003457583]	Chr9:137877939 [GRCh38] Chr9:140772391 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.108G>T (p.Gly36=)	single nucleotide variant	not provided [RCV003440850]	Chr9:137878041 [GRCh38] Chr9:140772493 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.180C>T (p.Asn60=)	single nucleotide variant	not provided [RCV003440851]	Chr9:137878113 [GRCh38] Chr9:140772565 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.273C>A (p.Ile91=)	single nucleotide variant	not provided [RCV003440852]	Chr9:137878206 [GRCh38] Chr9:140772658 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.351C>T (p.His117=)	single nucleotide variant	not provided [RCV003440853]	Chr9:137879120 [GRCh38] Chr9:140773572 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.18C>A (p.Asp6Glu)	single nucleotide variant	not provided [RCV003440848]	Chr9:137877951 [GRCh38] Chr9:140772403 [GRCh37] Chr9:9q34.3	uncertain significance
NM_000718.4(CACNA1B):c.42C>T (p.Gly14=)	single nucleotide variant	not provided [RCV003440849]	Chr9:137877975 [GRCh38] Chr9:140772427 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.486G>A (p.Leu162=)	single nucleotide variant	CACNA1B-related disorder [RCV003921466]	Chr9:137882839 [GRCh38] Chr9:140777291 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.414C>T (p.Ile138=)	single nucleotide variant	CACNA1B-related disorder [RCV003896292]	Chr9:137882767 [GRCh38] Chr9:140777219 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.304C>T (p.Leu102=)	single nucleotide variant	CACNA1B-related disorder [RCV003893627]	Chr9:137879073 [GRCh38] Chr9:140773525 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.284+8_284+9del	deletion	CACNA1B-related disorder [RCV003931911]	Chr9:137878225..137878226 [GRCh38] Chr9:140772677..140772678 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.284+6_284+7insAT	insertion	CACNA1B-related disorder [RCV003931951]	Chr9:137878223..137878224 [GRCh38] Chr9:140772675..140772676 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.108G>A (p.Gly36=)	single nucleotide variant	CACNA1B-related disorder [RCV003911845]	Chr9:137878041 [GRCh38] Chr9:140772493 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.-7G>T	single nucleotide variant	CACNA1B-related disorder [RCV003898932]	Chr9:137877927 [GRCh38] Chr9:140772379 [GRCh37] Chr9:9q34.3	likely benign
NM_000718.4(CACNA1B):c.450C>A (p.Ile150=)	single nucleotide variant	CACNA1B-related disorder [RCV003954825]	Chr9:137882803 [GRCh38] Chr9:140777255 [GRCh37] Chr9:9q34.3	likely benign
GRCh38/hg38 9q34.3(chr9:137615623-137984254)	copy number loss	Kleefstra syndrome 1 [RCV004720535]	Chr9:137615623..137984254 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137106653-138394717)	copy number loss	Kleefstra syndrome 1 [RCV004720502]	Chr9:137106653..138394717 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135969078-138104469)	copy number loss	Kleefstra syndrome 1 [RCV004720472]	Chr9:135969078..138104469 [GRCh38] Chr9:9q34.3	pathogenic
NM_000718.4(CACNA1B):c.104G>A (p.Gly35Glu)	single nucleotide variant	not specified [RCV004432172]	Chr9:137878037 [GRCh38] Chr9:140772489 [GRCh37] Chr9:9q34.3	uncertain significance
NM_000718.4(CACNA1B):c.530+35A>C	single nucleotide variant	not specified [RCV004598464]	Chr9:137882918 [GRCh38] Chr9:140777370 [GRCh37] Chr9:9q34.3	benign
NM_000718.4(CACNA1B):c.378G>T (p.Met126Ile)	single nucleotide variant	not specified [RCV004606161]	Chr9:137879147 [GRCh38] Chr9:140773599 [GRCh37] Chr9:9q34.3	uncertain significance
GRCh38/hg38 9q34.3(chr9:135182209-138129711)	copy number loss	Kleefstra syndrome 1 [RCV004720473]	Chr9:135182209..138129711 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	copy number loss	Kleefstra syndrome 1 [RCV004720477]	Chr9:137590213..138052188 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137710967-137917437)	copy number loss	Kleefstra syndrome 1 [RCV004720527]	Chr9:137710967..137917437 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	copy number loss	Kleefstra syndrome 1 [RCV004720478]	Chr9:137590213..137817525 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137800900-138059181)	copy number loss	Kleefstra syndrome 1 [RCV004720484]	Chr9:137800900..138059181 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	copy number loss	Kleefstra syndrome 1 [RCV004720480]	Chr9:136926151..138059181 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135954288-138125938)	copy number loss	Kleefstra syndrome 1 [RCV004720483]	Chr9:135954288..138125938 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137529711-138129711)	copy number loss	Kleefstra syndrome 1 [RCV004720486]	Chr9:137529711..138129711 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	copy number loss	Kleefstra syndrome 1 [RCV004720487]	Chr9:137552409..137879159 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137614558-138394717)	copy number loss	Kleefstra syndrome 1 [RCV004720512]	Chr9:137614558..138394717 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137059436-137902321)	copy number loss	Kleefstra syndrome 1 [RCV004720509]	Chr9:137059436..137902321 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137640986-138143864)	copy number loss	Kleefstra syndrome 1 [RCV004720510]	Chr9:137640986..138143864 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135791488-138262981)	copy number loss	Kleefstra syndrome 1 [RCV004720522]	Chr9:135791488..138262981 [GRCh38] Chr9:9q34.3	pathogenic
NM_000718.4(CACNA1B):c.160_161del (p.Arg54fs)	microsatellite	not provided [RCV004726029]	Chr9:137878086..137878087 [GRCh38] Chr9:140772538..140772539 [GRCh37] Chr9:9q34.3	uncertain significance
GRCh38/hg38 9q34.3(chr9:136993278-138200863)	copy number loss	Kleefstra syndrome 1 [RCV004720533]	Chr9:136993278..138200863 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137757880-137971592)	copy number loss	Kleefstra syndrome 1 [RCV004720538]	Chr9:137757880..137971592 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:136869696-138172039)	copy number loss	Kleefstra syndrome 1 [RCV004720516]	Chr9:136869696..138172039 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135203306-138100471)	copy number loss	Kleefstra syndrome 1 [RCV004720521]	Chr9:135203306..138100471 [GRCh38] Chr9:9q34.3	pathogenic
NM_000718.4(CACNA1B):c.519C>T (p.Val173=)	single nucleotide variant	CACNA1B-related disorder [RCV004752496]	Chr9:137882872 [GRCh38] Chr9:140777324 [GRCh37] Chr9:9q34.3	likely benign
GRCh38/hg38 9q34.3(chr9:137505613-138394717)	copy number loss	Kleefstra syndrome 1 [RCV004720540]	Chr9:137505613..138394717 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137716626-138059189)	copy number loss	Kleefstra syndrome 1 [RCV004720546]	Chr9:137716626..138059189 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137710967-138069763)	copy number loss	Kleefstra syndrome 1 [RCV004720479]	Chr9:137710967..138069763 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	copy number loss	Kleefstra syndrome 1 [RCV004720482]	Chr9:137552409..138052113 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137710967-137986854)	copy number loss	Kleefstra syndrome 1 [RCV004720489]	Chr9:137710967..137986854 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137569711-138129711)	copy number loss	Kleefstra syndrome 1 [RCV004720496]	Chr9:137569711..138129711 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:134642187-138121999)	copy number loss	Kleefstra syndrome 1 [RCV004720503]	Chr9:134642187..138121999 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:136817307-138133487)	copy number loss	Kleefstra syndrome 1 [RCV004720504]	Chr9:136817307..138133487 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:136032451-138125938)	copy number loss	Kleefstra syndrome 1 [RCV004720514]	Chr9:136032451..138125938 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:136684941-138124673)	copy number loss	Kleefstra syndrome 1 [RCV004720523]	Chr9:136684941..138124673 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137361253-138125937)	copy number loss	Kleefstra syndrome 1 [RCV004720524]	Chr9:137361253..138125937 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137552082-138394717)	copy number loss	Kleefstra syndrome 1 [RCV004720495]	Chr9:137552082..138394717 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137456472-138100471)	copy number loss	Kleefstra syndrome 1 [RCV004720534]	Chr9:137456472..138100471 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135008333-138199729)	copy number loss	Kleefstra syndrome 1 [RCV004720511]	Chr9:135008333..138199729 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135338745-138124196)	copy number loss	Kleefstra syndrome 1 [RCV004720539]	Chr9:135338745..138124196 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137574569-138112014)	copy number loss	Kleefstra syndrome 1 [RCV004720542]	Chr9:137574569..138112014 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137552081-137879159)	copy number loss	Kleefstra syndrome 1 [RCV004720474]	Chr9:137552081..137879159 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	copy number loss	Kleefstra syndrome 1 [RCV004720481]	Chr9:137552409..138059181 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:138125938-138394717)	copy number loss	Kleefstra syndrome 1 [RCV004720507]	Chr9:138125938..138394717 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:136806104-138394717)	copy number loss	Kleefstra syndrome 1 [RCV004720497]	Chr9:136806104..138394717 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135204722-138394717)	copy number loss	Kleefstra syndrome 1 [RCV004720508]	Chr9:135204722..138394717 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	copy number loss	Kleefstra syndrome 1 [RCV004720515]	Chr9:134288333..138155727 [GRCh38] Chr9:9q34.2-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137782789-138068654)	copy number loss	Kleefstra syndrome 1 [RCV004720519]	Chr9:137782789..138068654 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137574569-138212068)	copy number loss	Kleefstra syndrome 1 [RCV004720526]	Chr9:137574569..138212068 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137170000-138360000)	copy number loss	Kleefstra syndrome 1 [RCV004720531]	Chr9:137170000..138360000 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137778047-138231664)	copy number loss	Kleefstra syndrome 1 [RCV004720532]	Chr9:137778047..138231664 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137505548-138105548)	copy number loss	Kleefstra syndrome 1 [RCV004720506]	Chr9:137505548..138105548 [GRCh38] Chr9:9q34.3	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	469
Count of miRNA genes:	226
Interacting mature miRNAs:	238
Transcripts:	ENST00000371390, ENST00000587008
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.

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
281	593	761	522	3318	592	544	83	368	50	595	1509	1468	3	3053	156	896	412	33

Sequence

Nucleotide Sequences


RefSeq Transcripts	NR_121583	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK128414	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL611925	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL772363	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068269	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000371390

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	137,867,925 - 137,892,570 (-)	Ensembl

Ensembl Acc Id:

ENST00000587008

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	137,867,927 - 137,876,693 (-)	Ensembl

Ensembl Acc Id:

ENST00000727143

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	137,867,924 - 137,876,693 (-)	Ensembl

Ensembl Acc Id:

ENST00000727144

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	137,873,035 - 137,876,696 (-)	Ensembl

RefSeq Acc Id:

NR_121583

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	137,867,925 - 137,892,570 (-)	NCBI
T2T-CHM13v2.0	9	150,133,073 - 150,157,714 (-)	NCBI

Sequence:

show sequence

AGTGCAGCTGTGTTGTCAGGCCCAGAGGCTGATGACAGAGAAGCGTGAGAAAGGACCCACAGTC
AGAGGAAAGGGGGAGAACTATGGCGGATTCTGCAGACATCAAACCATCTAACCATTTCACGATG
CAATGATGCACCAGCAACAGCCACATGGCCACAGTGGACCCCGCAGGCCTGGCCCTGCATCCCG
CCTGCCCCAGGGTCTGGGGTCCATCGGATCAGCACCGCCCACCACAAGAAGGCAGTCATCTGCC
AGCCAGGAGGAGAGGCCTCGCCAGAAACCAATCCTGCCAACACCCTGATCTTGGACCTCCAGCC
TCCAGGACTGAGAAGGAAATGTCTGCTGTTGCAGCGCCCGGCTGTGCTGCTTTGCTCCAGCCTC
CCCAGCAGACCAGTGTCCAGTCGTTCAAGGGAATGAGCCTGTCAGTAGAGGCTGGGCTTTGTGG
TGAGCCAGCAGGGAAACTTCTCGGGGAGGGAGGAGGGCAAAGAGAGGCCAGCCTGGTGGGGAAG
AAGGGGTGGGAGTGGAGAAGACACAGAGGCCGCACACTGAGTGAGGAGGACCAAGGCGCAAGGC
CCTTTTCACCAGGCTCCTGTGCTCTCAGGGGAGACAGGGAGGGTGGCATTGGCTAGAAGGGCCT
GCCCAGCCCTGGAGAAAGGAGCTCACAGCAGGGTCGTGAAGAGGGCAGGGACTGGGTGGGGGGT
GCTACCATGTGACCTGCTAGGAATGAATCTGCGTTAGCGTCCGTCTGGCTGGAGTAGAGATGCT
TCAGCACGTGTGGGGCTGCACACAGGCACGCAGGGTGGAGGCCCCTCCACTCTACAGCCCCACA
GCCAGCACCTGCCTTCTCACCTCTTCTAGTCCAGGGCCCGAGAAGCCATTAGCAACCATCCTCA
CCTCAGTGTGAATCTGCAACTCTGCCGCTCCAGTGTGAAGGAGGAGAAGGAGAGCAGGAAGGGG
TGTCCACCACCACGTGCCCACAGGAGCAAGGCTCCCACCCTCCCGGGGTATGAACTTGAACCCC
TGTGACCTCTGTGGGTGCATCTGCACAGAATGCAGGTCCCCTGTCCCCCAGCCACCGCACCACA
CCAGCCTAGCCATCCTCGCGAGCCGCCACAGGCCTGGGACCCCCCAGGGCACTGGAACACAGCA
GCCCCAGTGAGCACCTGGAGCCCGAGCCTGGACCGGAGGCCACGGACGGCTTCGAACAGGCCAG
CCCCCAGGAGGGGCGGCTCTTCTACAGCCAGCCCGGCACTGCCCGCCCAGCCTCCCAGATCCAG
AGGCAGCTGCTCCAGAGAGAGTGGGGGCTCCAGGGACTTCTCCCAAGCAAGATGAAAACACAGG
TTTTTGCGTGAAAGTTCCTTCTTAAATACTGACAGCAAGTTTAGAGCCCATCTCAGATCCCTGG
CTGTGCTCCATCAGCCCAACAGCCACAGACCCAAAATTTAAAGTAGCCATGCGCCCTGAGAGCC
CAACCTGCCTGGCCACGCACAGGCCAGCCATGGTCCCAGGAGTGGGCGTGTGCCCCCGACACCA
CACAGCTGTGTCCCTCCCTTCCATCCCCCACCCACAGGCAGAGCTGGAAAGATCAGCACCACGG
AGAGAGACGAGCATGGCCAGTCCCAGGCCCCCAGGCCGCCCTGCCCACCTGCCCCATCCCTCCC
GAACTGTCCCCTCAGAGCTGGGTCCTGGGCTGAGACTCCCCAAACTGTGACCTTCAAGGCTTCT
CACACAGCTCACCCCAGCCTCACGGCCTCCAGCTCTGCCGCTCACTGTCCCCACCACACTCTCC
CTGGACCCCCACCCCTCCAGCTGCTGGGGCAGGAAATCAAGCCTCCGACTGACCCTCCTGGTGG
GACCCCTGAAGAGAAAGGCGTGTAAGGGGGACTCTGTGCACACCTGCGTAAGGGGGACTCTGCA
CACCTGCAGAACCGCCCATCCCTGGAGCCCGGCCTGCAGTCACCGTCGAGAGGAGAGGCCTGGA
GCACAGAGTGGATCCTGTGGCATGGGGACTTTGCCGTTGGCAGAACACGCACCCTGGGGGGAAG
GGCCCTGGCTCCATCGTGCCCAGCAAGTACCTGGCCCATATCAGGGACATATGAGTAAAGGACA
GACCACCTGGTCCAGTCCCCACTTGCCTGAGGACAGCAGCCCAGACCCCCATGAATGATGAAAG
TCCTTCTCTGGGTTGAGCTGAAACCTCCCTTCCTTATCTCCCACCCATGTCCCCCGTCCCCCTG
GGAAAGTCTGCGGTATCCAAGGGCAGCCCTGGGCTCCTTCAGCTCTCCAGTCCCCATGGTGAAA
GATCCGCAGAGAGGCCAACCCTCCCTTGGGTCGGCTATGCCAGGCGGGCATATGAGAGGCCCCA
GACGTCTGCAACGCTGGCCCGATGCCCATCCAGTGAGCCAGCCCCGCGCTGCTTCTATCCAGGG
AGTCTCTGGATTTGGGCTCCTCAGGCAGCAGAGCACACATGGAGACGCGGAGACCCCAGAGAAG
ACCCCACAGGACTGGAGCCCAAGGCCAGGGGCTGTGAGGGGACCCCAGTGAGGGGACTGCAGCT
GCCCCAGCTCCACGGCGCAACTGAGCTTCAGAGAGCACACGCCCGGGCCTCACACGCTGGGCCT
CCTGGCCTCAGCTTGCCTACCCTGTGAGGACGACCACGAAGTCCATGACGTTCCAGCCGTTCCG
CAGTTCCAGTTCCTGCGTCCTCCCCTTGTTCCTGCCAGCGGGGGATGGCATCACGCAGGCATGG
TGAATCCTGGCCCTTGGGACTTCCCTGCGCCTTGCACAGATCGCACAGATTGTGGTAGATGGTC
CCTTGCAAGTGTCATCCTGCCTGATGCATCACCACCGAGGAAGCGACCGAAGTCAGAGACAGAG
GATGCTGCCACTCCCCAAGAATGAAGCCGGGCTTCATTCCCATCACCTAGGCTGCAGTACAGGG
GCATGATCTCGGCTCACTGCAACCTCCACCTCCTGGACTCAAGCAACCCTCCCATTCCAGCCTC
CCAGGTAGCAAGGACTACAGGCACACACCACCATGCCAGGCTAATTTTTGTTTGTTTGTTTTTG
TTGAGACGGTGTTTCACCATGTTGCCCAGGCTGGCCTCGAACTCCTGAGTTCAAGTGATCTGCC
CACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCACGAGCCACCACACTCAGCCTTCATCATCT
AATAAAATCTAACCAAATCCTT

hide sequence

Protein Sequences


GenBank Protein	BAC87428	(Get FASTA)	NCBI Sequence Viewer

Additional Information

External Database Links

Database	Acc Id	Source(s)
COSMIC	AL772363.1	COSMIC
Ensembl Genes	ENSG00000203987	Ensembl, ENTREZGENE
Ensembl Transcript	ENST00000371390	ENTREZGENE
GTEx	ENSG00000203987	GTEx
Human Proteome Map	AL772363.1	Human Proteome Map
NCBI Gene	LOC100133077	ENTREZGENE
RNAcentral	URS0000319776	RNACentral

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2020-06-25	AL772363.1	novel transcript, antisense to CACNA1B and EHMT1	LOC100133077	uncharacterized LOC100133077	Symbol and/or name change	19259462	PROVISIONAL
2020-06-18	LOC100133077	uncharacterized LOC100133077	AL772363.1	novel transcript, antisense to CACNA1B and EHMT1	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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