| Gene Id | ENSG00000138622.4 |
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| Gene Name | HCN4 |
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| Region | intron |
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| Impact | intronic_insertion |
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| Transcript | Transcript 1: ENST00000261917.4 |
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| SpliceAI Score |
| Delta Scores | Acceptor Gain: 0.000 | Acceptor Loss: 0.000 | Donor Gain: 0.000 | Donor Loss: 0.010 |
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| Delta Score Max | 0.010 |
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| Delta Position at Max | 2414 |
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| Delta Score Flag | LOW |
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| Gene | HCN4 |
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| Altered Protein (FASTA) | >ENST00000261917.4 MDKLPPSMRKRLYSLPQQVGAKAWIMDEEEDAEEEGAGGRQDPSRRSIRLRPLPSPSPSA
AAGGTESRSSALGAADSEGPARGAGKSSTNGDCRRFRGSLASLGSRGGGSGGTGSGSSHG
HLHDSAEERRLIAEGDASPGEDRTPPGLAAEPERPGASAQPAASPPPPQQPPQPASASCE
QPSVDTAIKVEGGAAAGDQILPEAEVRLGQAGFMQRQFGAMLQPGVNKFSLRMFGSQKAV
EREQERVKSAGFWIIHPYSDFSFTGT*PCCC*WWET*LSFLWASPSSRMRTPHPGLSSMW
CQTHSSSSTWSSTSAQGSWWRTTQRSSWTRSGLK*ST*KAGSW*ISFPPSPWTTSSSLWR
HASTRRSTRLPGPCALSASRRSSASYACYASPASFDIFTSGKRSST*PTTWPAPWCAS*T
SSA*CSCSATGTAACSSWYPCYRTSLTTAGCPSTTW*TTPGGSSTPTRSSRP*ATCCASA
TGGRRPWACPTSGSPCSA*SWVPPATPCSLATPLPSSSPWTPPGASTRKSTSRWSSTCPF
TSSRPTPGSASTTTTSTATRARCSTRRASWAS*ASPCGRRSSTLTVGSWWPPCHCLPMRT
PTS*RPC*PSCVSRSSSLGTTSSGKAPLARRCTSSSMAWSACSPRATRRPSWPTAPTLEI
CLLTRGRRTASVRADTYCRLYSLSVDNFNEVLEEYPMMRRAFETVALDRLDRIEEELHPP
PQSPARPQLRRLQLPGE*DHPADCAA*PGDGPLRAPRPGCCLCHPNPHARHLDPADPGTT
AGCRCHHFCGHSPHPPPSPACCHLPPSPRIWAGQPRCRADAKAPETAAVPDPFCAGLRLA
RQQPVPGGHTVFILLPHPTAAVPDPFCAGLRLARQQPVPGGHTVFILLPHPTAGWILCPR
WTEPTPALIQLLPTPRGLWLPLGSHTISWRSRHHHSRVWPLPQGAGWLPVLLRLSPAHPA
AARRPLPAGCPAISRATRGPGRPGTPGALPATPTLIQIPVI*PRAAGPASRGVVPRSGHW
PTEHARDTPTAA*AAVPCGRGLWGGFPCRLYSPRRSQPPWPQPRPPKNLPECPAPGLWLP
RILAPATCIQPPTTPGPPAPGHTPAHPRPPHPGPQAHLRVSASPASGRGADSPQSLPALL
RGVHGCLPALPQGWGWQRGQWEQRGPRSPWEALWCHPRPARHSASEDILRFFATPSVFVW
GKSHLFWGAPSDCWTPEGTWGQA*ASALQTAIQS |
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| AlphaGenome Analysis |
| Window | chr15:73280919-73411991 |
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| RNA-seq Change (±2kb) | Mean: -0.00010558856592979282 | Peak: 0.06982421875 |
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| ATAC Change (±2kb) | Mean: -0.00042310822755098343 | Peak: 14.560928344726562 |
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| Interpretation | RNA-seq: no signal in region (REF≈0, ALT≈0) | Splice sites: no signal in region (REF≈0, ALT≈0) | ATAC: minimal change -1.3% |
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| Visualization | |
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